Case Reports in Genetics最新文献_第6页

Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity. 染色体1p31.1缺失：发育迟缓、张力低下、隐睾、口系带异常、足部畸形1例。

Case Reports in Genetics Pub Date : 2025-07-27 eCollection Date: 2025-01-01 DOI: 10.1155/crig/6152118

Tatiana Mikhailova, Ria Garg

{"title":"Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.","authors":"Tatiana Mikhailova, Ria Garg","doi":"10.1155/crig/6152118","DOIUrl":"10.1155/crig/6152118","url":null,"abstract":"Deletions within the chromosomal locus 1p31.1 are rare, with only a limited number of documented cases. The typical clinical presentation includes intellectual disability, failure to thrive, and craniofacial abnormalities. Some cases may also present with cardiac, gastrointestinal, and genitourinary malformations. Variability in deletion size contributes to a broad spectrum of clinical phenotypes, and a comprehensive understanding of the syndrome's manifestations is still evolving. This case study aims to provide additional insights into 1p31.1 microdeletion syndrome, enhancing knowledge of its genetic and phenotypic characteristics to improve recognition by clinicians. Here, we report a case featuring a 14.385 Mb deletion isolated to the 1p31.1 region, encompassing 41 genes. The deletion manifested with microcephaly, distinctive facial morphology, hypotonia, developmental delay, bilateral cryptorchidism, and flat feet. Notably, our case also exhibited congenital thickening of the lingual and labial frenulum, a trait not typically associated with this deletion.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"6152118"},"PeriodicalIF":0.0,"publicationDate":"2025-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12318624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776334","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

Corrigendum to "A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant With Severe High Anion Gap Acidosis and Review of the Literature". “严重高阴离子间隙酸中毒足月婴儿3-羟基异丁基辅酶A水解酶缺乏致死性病例及文献复习”的更正。

Case Reports in Genetics Pub Date : 2025-07-25 eCollection Date: 2025-01-01 DOI: 10.1155/crig/9827627

引用次数: 0

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report. 父系UPD（15）伴致病突变和小多余环染色体15：一例报告。

Case Reports in Genetics Pub Date : 2025-07-25 eCollection Date: 2025-01-01 DOI: 10.1155/crig/4973753

David Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, Ludmila Matyakhina, Mir Reza Bekheirnia

引用次数: 0

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications. 一例罕见的与FOCAD基因变异相关的新生儿胆汁淤积症：探讨其可变表型表现及其意义。

Case Reports in Genetics Pub Date : 2025-07-01 eCollection Date: 2025-01-01 DOI: 10.1155/crig/9569160

Ariel Tarrell, Jessika Weber, Reem Shawar, Luca Brunelli, Susan Morelli, Pinar Bayrak-Toydemir, Elizabeth Doughty, Gulsen Akay, Lorenzo D Botto, Emily Flemming, N Scott Reading, Catalina Jaramillo

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Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia. 从一例色盲患者的全基因组测序中鉴定出CNGB3致病性深内含子变异。

Case Reports in Genetics Pub Date : 2025-05-27 eCollection Date: 2025-01-01 DOI: 10.1155/crig/3466358

Matthew R Gregory, Khurram Liaqat, Kayla Treat, Kathryn M Haider, Francesco Vetrini, Erin Conboy

{"title":"Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.","authors":"Matthew R Gregory, Khurram Liaqat, Kayla Treat, Kathryn M Haider, Francesco Vetrini, Erin Conboy","doi":"10.1155/crig/3466358","DOIUrl":"10.1155/crig/3466358","url":null,"abstract":"Achromatopsia (ACHM) (MIM: 262300) is an autosomal recessive disorder characterized by reduced visual acuity and color blindness. In this report, we review the case of a 14-year-old male patient diagnosed with achromatopsia with a history of retinal dystrophy, cone dysfunction with normal dark-adapted response on ERG, congenital nystagmus, farsightedness, and astigmatism. The diagnostic exome sequencing previously revealed a single maternally inherited pathogenic CNGB3 variant (c.1148delC, p.(T383lfs∗13). Following enrollment in the Undiagnosed Rare Disease Clinic (URDC) at Indiana University School of Medicine (IUSM), genome sequencing (GS) identified a second CNGB3 known variant c.1663-1205G > A p.(Gly555Leufs∗33), which was classified as likely pathogenic. Identification of this variant in the patient provided the evidence needed for a molecular diagnosis and ended a 15-year diagnostic odyssey for the patient and his family. With a diagnosis, the patient is eligible for gene therapy and qualifies for the state-run Vocational Rehabilitation Program and bioptic driving.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"3466358"},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12133362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217120","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 Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report. 一个新的NPHP5基因突变在三个兄弟姐妹肾病无视网膜色素变性：1例报告。

Case Reports in Genetics Pub Date : 2025-04-28 eCollection Date: 2025-01-01 DOI: 10.1155/crig/1453255

Randah Abdullah Dahlan, Roaa Hani Fairoozy

{"title":"A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report.","authors":"Randah Abdullah Dahlan, Roaa Hani Fairoozy","doi":"10.1155/crig/1453255","DOIUrl":"https://doi.org/10.1155/crig/1453255","url":null,"abstract":"Nephronophthisis (NPHP) is a hereditary renal disorder characterized by the progression to end-stage renal disease (ESRD) at a young age. Our understanding of this disorder continues to improve as we identify more genes and gene variants associated with NPHP. In this report, we present a young patient with newly diagnosed advanced renal impairment and a strong family history of ESRD at a young age. The patient's kidney biopsy showed features suggestive of severe chronic interstitial nephritis, along with histopathological findings of advanced renal disease. Genetic testing revealed a novel variant in the IQCB1/NPHP5 gene, which is autosomal recessive. Family genetic analysis revealed that the patient's parents and two of his children are heterozygous for the identified variant, while two siblings with ESRD are homozygous for the IQCB1 p.(Ala486Asp) variant. Unlike previously described mutations in the IQCB1/NPHP5 gene, the patient and his affected siblings do not have retinitis pigmentosa. We report this novel gene variant in a Saudi family, describe its associated clinical features, and present the results of the family segregation analysis.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"1453255"},"PeriodicalIF":0.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12052450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037439","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

Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review. 脆性X综合征和DEPDC5相关疾病的双重诊断强调了DEPDC5在家族性癫痫之外的作用：1例报告和文献复习

Case Reports in Genetics Pub Date : 2025-04-02 eCollection Date: 2025-01-01 DOI: 10.1155/crig/4501466

Rory Edwards, Grace Murphy, Joshua W Owens, Craig Erickson, Robert Hopkin, Amelle Shillington

{"title":"Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review.","authors":"Rory Edwards, Grace Murphy, Joshua W Owens, Craig Erickson, Robert Hopkin, Amelle Shillington","doi":"10.1155/crig/4501466","DOIUrl":"https://doi.org/10.1155/crig/4501466","url":null,"abstract":"Dep domain-containing Protein 5 (DEPDC5), encoded by the gene DEPDC5, regulates the cell cycle by inhibiting the mTORC1 pathway in response to amino acid deficiency. Loss of function DEPDC5 variants are recognized to present as focal familial epilepsy; however, associations with comorbid brain malformations and neurodevelopmental disorders have also been reported. mTOR inhibitors were found to benefit DEPDC5-knockout mice. Fragile X syndrome (FXS) is an X-linked neurodevelopmental disorder caused by loss of function of FMR1, and females are expected to have milder neurodevelopmental presentations than males. The reported individual is a 17-year-old female diagnosed with FXS at 1 year of age, but the severity of her neuropsychiatric symptoms prompted further genetic testing at age 14, revealing a likely pathogenic c.4307_4310del DEPDC5 variant. Following this diagnosis, she was started on the mTOR inhibitor sirolimus without significant clinical response. She has never been diagnosed with epilepsy; however, her DEPDC5 and FXS dual diagnosis was thought explanatory for her presentation. A review of 213 previously reported individuals with DEPDC5-related disorder demonstrated that 15.2% of individuals do not have epilepsy, 24.3% have intellectual disability, and 33.8% have brain malformations. Her lack of response to sirolimus may represent the presence of a critical treatment window for mTOR inhibitors in neurodevelopmental disorders.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"4501466"},"PeriodicalIF":0.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11981699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017139","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

Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants. 复合杂合USH2A变异体儿童视神经缺损

Case Reports in Genetics Pub Date : 2025-03-11 eCollection Date: 2025-01-01 DOI: 10.1155/crig/4667935

Emily S Levine, Nidhi D Shah, Erin M Salcone

引用次数: 0

Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome. 经典Bartter综合征的两个兄弟姐妹发生新的CLCNKB突变。

Case Reports in Genetics Pub Date : 2025-03-04 eCollection Date: 2025-01-01 DOI: 10.1155/crig/8862780

Navid Roodaki, Leigh Michelle Salinas, Ebner Bon G Maceda, Jorelyn Frias

{"title":"Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome.","authors":"Navid Roodaki, Leigh Michelle Salinas, Ebner Bon G Maceda, Jorelyn Frias","doi":"10.1155/crig/8862780","DOIUrl":"10.1155/crig/8862780","url":null,"abstract":"Background: Bartter syndrome is a rare genetic illness characterized by impairment in kidney function caused by different gene defects. The primary pathogenic mechanism of Bartter syndrome is defective salt reabsorption, predominantly in the thick ascending limb of the loop of Henle. Case Presentation: Here, we present a case series between 2 siblings diagnosed with Bartter syndrome through clinical and genetic analyses. Both patients presented with severe dehydration secondary to polyuria which caused persistent electrolyte imbalances. However, the second sibling presented with hydrocephalus which may be associated with Bartter Syndrome. Genetic analysis determined the presence of a known pathogenic mutation and a novel mutation in the CLCNKB variant. Conclusions: Bartter syndrome Type III is a genetic disorder that must be identified clinically without delay, as it typically manifests as acute dehydration due to polyuria and vomiting. Hydrocephalus, although cannot be concluded to be a complication of Bartter syndrome, can be associated due to several electrolyte imbalances involved in this condition. Genetic testing is essential for identifying unidentified pathogenic variants that will aid future patients diagnosed with this condition. Genetic counseling is of the utmost importance for these families affected by the condition in question.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"8862780"},"PeriodicalIF":0.0,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626391","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

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report. 新的p.a g534del突变和MTHFR C667T多态性在脆性X综合征（FXS）与自闭症谱系表型：一个病例报告。

Case Reports in Genetics Pub Date : 2025-01-13 eCollection Date: 2025-01-01 DOI: 10.1155/crig/9751565

Hasan Hasan, Ellery R Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J Hagerman

{"title":"Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.","authors":"Hasan Hasan, Ellery R Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J Hagerman","doi":"10.1155/crig/9751565","DOIUrl":"10.1155/crig/9751565","url":null,"abstract":"Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of FMR1 (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in FMR1 have been described in the literature. It is believed that < 1% of cases are caused by point mutations. Genetic and functional testing of point mutations in FXS has yielded insights on KH domain RNA-binding properties of FMRP (Fragile X Messenger Ribonucleoprotein Protein) and nuclear export of the protein. Here, we report a c.1599_1601del p.Arg534del novel mutation in FMR1 with homozygous C677T MTHFR polymorphism in a 12-year-old boy. He presents with unique phenotype of FXS with ASD, developmental delay, nonverbal learning disorder (NVLD), overall IQ in the 5th percentile with above average verbal IQ (66th percentile), difficulties with quantitative reasoning, dyspraxia, below average visual-spatial skills (2nd percentile), difficulty with social pragmatics and social understanding, and executive dysfunction. He has a strong aptitude for music and exceptional aural skills. Identification of novel variants has helped in understanding functional aspects of FMRP. In addition, it aids families in genetic counseling and in administering therapies for children with FXS who present with atypical features.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2025 ","pages":"9751565"},"PeriodicalIF":0.0,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013048","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