Case Reports in Genetics最新文献

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Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation. 2 号染色体上的宪制性染色体三分裂症:一个表现严重的罕见病例。
Case Reports in Genetics Pub Date : 2024-01-30 eCollection Date: 2024-01-01 DOI: 10.1155/2024/6319030
Afia Hasnain, Laura L Thompson, Nicole L Hoppman, Karine Hovanes, Jing Liu, Bita Hashemi
{"title":"Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.","authors":"Afia Hasnain, Laura L Thompson, Nicole L Hoppman, Karine Hovanes, Jing Liu, Bita Hashemi","doi":"10.1155/2024/6319030","DOIUrl":"10.1155/2024/6319030","url":null,"abstract":"<p><p>Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, reported in children presenting with a wide range of birth defects. We present a case of a female child born with multiple major congenital abnormalities including severe microcephaly, ocular dysgenesis, heart defect, and imperforate anus. Chromosomal microarray and mate pair sequencing identified a complex chromosomal rearrangement involving the terminal end of the long arm of chromosome 2, with two duplications (located at 2p25.3-p25.1 and 2q35-q37.2 regions) and two deletions (located at 2q37.2-q37.3 and 2q37.3 regions) along with structural changes including inverted segments. A review of the literature for complex rearrangements on chromosome 2 revealed overlapping features; however, our patient had a significantly more severe phenotype which resulted in early death at the age of 2 years. Breakpoints analysis did not reveal the involvement of any candidate genes. We concluded that the complexity of the genomic rearrangement and the combined dosage/structural effect of these copy number variants are likely explanations for the severe presentation in our patient.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139698500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome 生殖器畸形和生长发育迟缓是共济失调扩张型心肌病综合征的早期征兆
Case Reports in Genetics Pub Date : 2024-01-20 DOI: 10.1155/2024/8860889
K. Papadopoulou-Legbelou, Maria Ntoumpara, M. Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, A. Galli-Tsinopoulou, Maria Fotoulaki
{"title":"Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome","authors":"K. Papadopoulou-Legbelou, Maria Ntoumpara, M. Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, A. Galli-Tsinopoulou, Maria Fotoulaki","doi":"10.1155/2024/8860889","DOIUrl":"https://doi.org/10.1155/2024/8860889","url":null,"abstract":"Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. We describe a homozygous pathogenic variant in the DNAJC19 gene, diagnosed in Northern Greece, presenting with genital anomalies, growth failure, cardiomyopathy, and ataxia, but without increased urinary 3-methylglutaconic acid and additional presence of vitamin D disorders, hypercalciuria, and osteopenia. This case not only expands the clinical characteristics of 3-methylglutaconic aciduria type V (MGCA5) but also highlights the power of genetic analysis for detecting a diagnosis when the metabolic screen is negative.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139524314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder 一种新型杂合子新MORC2缺义变异导致早发性严重神经发育障碍
Case Reports in Genetics Pub Date : 2024-01-02 DOI: 10.1155/2024/5906936
Daniel Arbide, N. Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park
{"title":"A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder","authors":"Daniel Arbide, N. Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park","doi":"10.1155/2024/5906936","DOIUrl":"https://doi.org/10.1155/2024/5906936","url":null,"abstract":"Microrchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription through chromatin remodelling and epigenetic silencing. MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism. Notably, variants in MORC2 have shown clinical features overlapping with those of Cockayne and Leigh syndromes. Here, we report a case of MORC2-related DIGFAN syndrome in a female infant caused by a novel heterozygous de novo variant. The condition was early onset and severe, further expanding the range of genotypes associated with this disorder. Clinical features included unilateral hearing loss, developmental delay and regression within the first year of life, microcephaly, severe feeding difficulties, and faltering growth, resulting in death at 13 months of age.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139391504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel SPAST Variant Associated with Isolated Spastic Paraplegia 与孤立性痉挛性截瘫相关的新型 SPAST 变异基因
Case Reports in Genetics Pub Date : 2023-12-31 DOI: 10.1155/2023/4553365
Helle Høyer, Ola Nakken, Trygve Holmøy
{"title":"A Novel SPAST Variant Associated with Isolated Spastic Paraplegia","authors":"Helle Høyer, Ola Nakken, Trygve Holmøy","doi":"10.1155/2023/4553365","DOIUrl":"https://doi.org/10.1155/2023/4553365","url":null,"abstract":"Genetic variants in SPAST are the most common cause of hereditary spastic paraplegia (HSP), entitled spastic paraplegia type 4 (SPG4). Inheritance is autosomal dominant, and age of onset can vary from childhood to adulthood. Pathogenic SPAST variants are often observed in isolated cases, likely due to reduced penetrance and clinical variability. We report an isolated case of SPG4 associated with a novel likely pathogenic variant in SPAST. A 38-year-old woman presented with an eight-year history of progressive difficulty walking. Neurological examination revealed spastic paraparesis in the absence of upper motor neuron dysfunction, sensory deficits, or intellectual disability. Magnetic resonance imaging (MRI) of the brain and spinal cord was normal. No family members had similar complaints. Genetic analysis revealed a novel heterozygous sequence variant in SPAST, c.1751A > G p.(Asp584Gly) (NM_014946.4). The affected amino acid is highly conserved among orthologue and paralogue species. Four other nucleotide substitutions predicted to affect the same amino acid, a “hot spot”, have been reported previously in adult-onset HSP. This report describes a novel SPAST variant in a female with HSP without a known family history of the disorder.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139134262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening. 产前无细胞DNA筛查诊断母体22q重复和镶嵌缺失。
Case Reports in Genetics Pub Date : 2023-11-20 eCollection Date: 2023-01-01 DOI: 10.1155/2023/9127430
Melissa A Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim
{"title":"A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening.","authors":"Melissa A Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim","doi":"10.1155/2023/9127430","DOIUrl":"https://doi.org/10.1155/2023/9127430","url":null,"abstract":"<p><p>Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. We describe a case of germline 22q11.21 microduplication syndrome with concurrent mosaic 22q11.2 deletion in a pregnant patient, identified by chromosomal microarray and FISH after noninvasive prenatal genetic screening (cfDNA) results discordant with family history. The patient was referred to maternal-fetal medicine (MFM) at 14 weeks' gestation secondary to an SNP-based cfDNA result of a suspected maternal 22q11.2 deletion and a fetal risk of 1 in 2 for 22q11.2 deletion syndrome. The patient reported a similar cfDNA result in a previous pregnancy; however postnatal chromosomal microarray on that child identified an atypical 22q11.21 microduplication. We report the maternal chromosomal microarray findings of a germline 726 kb 22q11.21 duplication and a mosaic 1.33 Mb 22q11.2 deletion and highlight the copy number variant data generated by cfDNA in this unique case. This family adds to the limited literature of concurrent 22q11.2 microduplication and microdeletion carriers.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138463015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels 罕见的46,X,t(Y;10)(q12;p14)平衡易位在FSH和LH水平升高的非阻塞性无精子症患者中
Case Reports in Genetics Pub Date : 2023-11-13 DOI: 10.1155/2023/6722623
Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet
{"title":"A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels","authors":"Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet","doi":"10.1155/2023/6722623","DOIUrl":"https://doi.org/10.1155/2023/6722623","url":null,"abstract":"Structural chromosomal aberrations like translocations have been shown to cause spermatogenic failure. We report a rare 46,X,t(Y;10)(q12;p14) balanced translocation in an otherwise healthy non-obstructive azoospermic male with high follicle-stimulating hormone (26.65 IU/L) and high luteinizing hormone (13.58 IU/L). The patient was referred to us after clinical, hormonal, and histopathological investigations to identify chromosomal abnormalities by karyotyping and fluorescence in situ hybridization (FISH). Analysis of the banding pattern by karyotyping followed by FISH confirmed reciprocal translocation and identified the breakpoints at Yq heterochromatin (Yq12) and 10p14. Further molecular tests including AZF microdeletion assay were done, and the results, which showed no mutations in the analyzed genes, were provided by the referring doctor. Thus, our study points to the importance of conventional cytogenetic techniques in the preliminary evaluation of a genetic abnormality in cases of infertility and would help the patient make an informed decision before pursuing assisted reproductive technology.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136281824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review. BRPF1相关神经发育障碍的Mosaiism:两姐妹的报告和文献综述。
Case Reports in Genetics Pub Date : 2023-11-01 eCollection Date: 2023-01-01 DOI: 10.1155/2023/1692422
Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu
{"title":"Mosaicism in <i>BRPF1</i>-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review.","authors":"Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu","doi":"10.1155/2023/1692422","DOIUrl":"10.1155/2023/1692422","url":null,"abstract":"<p><p>Bromodomain and PHD finger containing 1 (<i>BRPF1</i>)-related neurodevelopmental disorder is characterized by intellectual disability, developmental delay, hypotonia, dysmorphic facial features, ptosis, and blepharophimosis. Both <i>de novo</i> and inherited pathogenic variants have been previously reported in association with this disorder. We report two affected female siblings with a novel variant in <i>BRPF1</i> c.2420_2433del (p.Q807Lfs<i>∗</i>27) identified through whole-exome sequencing. Their history of mild intellectual disability, speech delay, attention deficient hyperactivity disorder (ADHD), and ptosis align with the features previously reported in the literature. The absence of the <i>BRPF1</i> variant in parental buccal samples provides evidence of a <i>de novo</i> frameshift pathogenic variant, most likely as a result of parental gonadal mosaicism, which has not been previously reported. The frameshift pathogenic variant reported here lends further support to haploinsufficiency as the underlying mechanism of disease. We review the literature, compare the clinical features seen in our patients with others reported, and explore the possibility of genotype-phenotype correlation based on the location of pathogenic variants in <i>BRPF1</i>. Our study helps to summarize available knowledge and report the first case of a <i>de novo</i> frameshift pathogenic variant in <i>BRPF1</i> in two siblings with this neurodevelopmental disorder.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72015630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia. 罕见的镶嵌型3、5染色体缺失-重复伴自闭症谱系障碍和运动障碍1例。
Case Reports in Genetics Pub Date : 2023-10-16 eCollection Date: 2023-01-01 DOI: 10.1155/2023/7974886
Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman
{"title":"A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia.","authors":"Luna Bajracharya,&nbsp;Meena Lall,&nbsp;Sunita Bijarnia-Mahay,&nbsp;Praveen Kumar,&nbsp;Imran Mushtaq,&nbsp;Pushpa Saviour,&nbsp;Preeti Paliwal,&nbsp;Anju Joshi,&nbsp;Shruti Agarwal,&nbsp;Praveen Suman","doi":"10.1155/2023/7974886","DOIUrl":"10.1155/2023/7974886","url":null,"abstract":"<p><strong>Introduction: </strong>There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of such cases. <i>Case Description.</i> A 3 years and 11 months old boy with global developmental delay had repetitive behaviors and hyperkinetic movements. He was stunted and underweight. He had ataxia, limb dyskinesia, triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal tip, polydactyly, tappering fingers, and decreased tone in the upper and lower limbs with normal deep tendon reflexes. Magnetic resonance imaging of the brain, ultrasound of the abdomen, and ophthalmological evaluation were normal. Brain evoked response auditory revealed bilateral moderate hearing loss. He fulfilled the Diagnostic Statistical Manual 5 criteria for autism. In the Vineland Social Maturity Scale, his score indicated a severe delay in social functioning. His genetic evaluation included karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). The karyotype report from high-resolution lymphocyte cultures was mos 46, XY, der(3)t(3; 5)(p26; p15.3)[50]/46, XY,der(5) t(3;5) (p26;p15.3)[50].ish. His karyotype report showed a very rare and abnormal mosaic pattern with two cell lines (50% each). Cell-line#1: 3pter deletion with 5pter duplication (3pter-/5pter+) and cell-line#2: 3pter duplication with 5pter deletion (3pter+/5pter-) derived from a <i>de novo</i> reciprocal translocation t(3; 5)(p26; p15.3) which was confirmed by FISH. The chromosomal microarray analysis report was normal. The two cell lines (50% each) seem to have balanced out at the whole genome level. Occupational, sensory integration, and behavior modification therapy were initiated for his autistic features, and anticholinergic trihexiphenidyl was prescribed for hyperkinetic movements.</p><p><strong>Conclusion: </strong>This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50158936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome). Lrp2候选变异体双胞胎(Donnay-Barrow/Foar综合征)的行为表型、电临床特征和治疗选择。
Case Reports in Genetics Pub Date : 2023-09-30 eCollection Date: 2023-01-01 DOI: 10.1155/2023/6679572
Alessia Mingarelli, Giovanni Battista Pipitone, Giacomo Torini, Maria Grazia Patricelli, Martina Totaro, Clara Colonna, Paola Carrera, Federico Raviglione
{"title":"Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with <i>Lrp2</i> Candidate Variants (Donnay-Barrow/Foar Syndrome).","authors":"Alessia Mingarelli,&nbsp;Giovanni Battista Pipitone,&nbsp;Giacomo Torini,&nbsp;Maria Grazia Patricelli,&nbsp;Martina Totaro,&nbsp;Clara Colonna,&nbsp;Paola Carrera,&nbsp;Federico Raviglione","doi":"10.1155/2023/6679572","DOIUrl":"10.1155/2023/6679572","url":null,"abstract":"<p><p>The <i>LRP2</i> gene encodes megalin (LRP-2/GP330), a large single-spanning transmembrane glycoprotein that serves as a multiligand endocytotic receptor and mediates the reabsorption of albumin in the proximal renal tubule. <i>LRP2</i> is implicated in an autosomal recessive disorder characterized by dimorphisms, ocular anomalies, sensorineural deafness, proteinuria, epilepsy, and intellectual disability: a clinical condition called Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome. Pathogenic variants in <i>LRP2</i> have been reported in fewer than 60 patients, but a detailed description of seizures, electroencephalographic patterns, imaging findings, behavioral phenotype, and long-term follow-up is still needed. We provide a clinical report of two mono-chorionic twins with <i>LRP2</i>-related disease manifesting developmental delay, autistic features, seizures, proteinuria, and sleep disorders. By sequencing clinical exome, <i>LRP2</i> candidate rare variants, c.6815G > A, p. (Arg2272His), inherited from the mother and c.12725A > G, p. (Asp4242Gly), inherited from the father, were identified. During follow-up, at the age of 7, the main clinical features of the patients included insomnia, autistic features, severe psychomotor delay, and absent speech. The patients were under treatment with risperidone, antiseizure medications (ASMs), and supplementation of alpha-lactalbumin for self-injury and sleep disturbance. Our study confirmed the wide spectrum of behavioral and neurological and psychiatric features of this rare condition, suggesting new treatment options.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41111207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader-Willi Syndrome. 不涉及SNORD116的非典型15q11.2微缺失导致Prader-Willi综合征。
Case Reports in Genetics Pub Date : 2023-09-13 eCollection Date: 2023-01-01 DOI: 10.1155/2023/4225092
Molly M Crenshaw, Sharon L Graw, Dobromir Slavov, Theresa A Boyle, Daniel G Piqué, Matthew Taylor, Peter Baker
{"title":"An Atypical 15q11.2 Microdeletion Not Involving <i>SNORD116</i> Resulting in Prader-Willi Syndrome.","authors":"Molly M Crenshaw,&nbsp;Sharon L Graw,&nbsp;Dobromir Slavov,&nbsp;Theresa A Boyle,&nbsp;Daniel G Piqué,&nbsp;Matthew Taylor,&nbsp;Peter Baker","doi":"10.1155/2023/4225092","DOIUrl":"https://doi.org/10.1155/2023/4225092","url":null,"abstract":"<p><p>Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental disorder Prader-Willi Syndrome (PWS). The PWS critical region contains four paternally expressed protein-coding genes along with small nucleolar RNA (snoRNA) genes under the control of the <i>SNURF-SNRPN</i> promoter, including the <i>SNORD116</i> snoRNA gene cluster that is implicated in the PWS disease etiology. A 5-7 Mb deletion, maternal uniparental disomy, or an imprinting defect of chromosome 15q affect multiple genes in the PWS critical region, causing PWS. However, the individual contributions of these genes to the PWS phenotype remain elusive. Reports of smaller, atypical deletions may refine the boundaries of the PWS critical region or suggest additional disease-causing mechanisms. We describe an adult female with a classic PWS phenotype due to a 78 kb microdeletion that includes only exons 2 and 3 of <i>SNURF-SNRPN</i> with apparently preserved expression of <i>SNORD116</i>.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41167931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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