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Journal of pediatric genetics最新文献

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Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations. 染色体 1p36 缺失综合征：四名表现各异的患者
IF 0.4
Journal of pediatric genetics Pub Date : 2021-07-28 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1732477
Chakshu Chaudhry, Divya Kumari, Inusha Panigrahi, Parminder Kaur
{"title":"Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations.","authors":"Chakshu Chaudhry, Divya Kumari, Inusha Panigrahi, Parminder Kaur","doi":"10.1055/s-0041-1732477","DOIUrl":"10.1055/s-0041-1732477","url":null,"abstract":"<p><p>Chromosome 1p36 deletion accounts for around 1% of cases of intellectual disability. The pattern of clinical features includes developmental delay, hypotonia, seizures, short stature, intellectual disability, vision and hearing deficits, congenital heart disease, and renal abnormalities. The size of deletion can be variable. We report four cases of 1p36 deletion syndrome detected in the past 3 years in a genetic clinic. One patient was detected by next-generation sequencing, another by chromosomal microarray, and the remaining two by multiplex ligation-dependent probe amplification. We discuss the variable presentations in the four children. Early diagnosis enables better prognostication and further reproductive planning.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10756721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74126527","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 Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1. 一例患有两种 COL2A1 基因突变的阿尔及利亚型脊柱软骨发育不良症重症病例
IF 0.4
Journal of pediatric genetics Pub Date : 2021-07-26 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1732474
Francisco Cammarata-Scalisi, Uta Matysiak, Colin E Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendaño, Houweyda Jilani, Michele Callea
{"title":"A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in <i>COL2A1</i>.","authors":"Francisco Cammarata-Scalisi, Uta Matysiak, Colin E Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendaño, Houweyda Jilani, Michele Callea","doi":"10.1055/s-0041-1732474","DOIUrl":"10.1055/s-0041-1732474","url":null,"abstract":"<p><p>Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the <i>COL2A1</i> gene (MIM no.: 120140). In this case based review, we reported a 5-year-old boy with short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, short trunk, and severe genu valgum <i>.</i> Radiological examination showed platyspondyly, irregular metaphyseal radiolucencies intermingled with radiodensities, and corner fractures. The patient has a c.3275G > A; p.Gly1092Asp mutation in exon 47 of the <i>COL2A1</i> gene and a variant of unknown significance in c.1366-13C > A in intron 21. This latter sequence variant could partially or completely disrupt the natural splice acceptor site of intron 21/exon 22 in the <i>COL2A1</i> gene leading to a potential modification of the phenotypic severity.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10756726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74685180","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
Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome. 新生儿检查结果在早期诊断哈伯兰综合征病例中的实用性。
IF 0.4
Journal of pediatric genetics Pub Date : 2021-07-19 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1731687
Morgan R Sturgis, Kathryn E Wrobel, Gianna N Bosco, Carolyn H Jones
{"title":"Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome.","authors":"Morgan R Sturgis, Kathryn E Wrobel, Gianna N Bosco, Carolyn H Jones","doi":"10.1055/s-0041-1731687","DOIUrl":"10.1055/s-0041-1731687","url":null,"abstract":"<p><p>Haberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10756718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82856011","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
Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy. 明显的面部无力、上睑下垂和下颌下垂：一个与 RYR1 相关的先天性中心核肌病病例
IF 0.4
Journal of pediatric genetics Pub Date : 2021-07-03 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1731683
Bhanudeep Singanamalla, Shivan Kesavan, Divya Aggarwal, Debajyoti Chatterjee, Andoni Urtizberea, Renu Suthar
{"title":"Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with <i>RYR1</i> -Related Congenital Centronuclear Myopathy.","authors":"Bhanudeep Singanamalla, Shivan Kesavan, Divya Aggarwal, Debajyoti Chatterjee, Andoni Urtizberea, Renu Suthar","doi":"10.1055/s-0041-1731683","DOIUrl":"10.1055/s-0041-1731683","url":null,"abstract":"<p><p>Congenital myopathies are an expanding spectrum of neuromuscular disorders with early infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle weakness. <i>RYR1</i> -related myopathies are the most common and frequently diagnosed class of congenital myopathies. Malignant hyperthermia susceptibility and central core disease are autosomal dominant or de novo <i>RYR1</i> disorder, whereas multiminicore, congenital fiber type disproportion and centronuclear myopathy are autosomal recessive <i>RYR1</i> disorders. The presence of ptosis, ophthalmoparesis, facial, and proximal muscles weakness, with the presence of dusty cores and multiple internal nuclei on muscle biopsy are clues to the diagnosis. We describe an 18-year-old male, who presented with early infantile onset ptosis, ophthalmoplegia, myopathic facies, hanging lower jaw, and proximal muscle weakness confirmed as an <i>RYR1</i> -related congenital centronuclear myopathy on genetic analysis and muscle biopsy.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10756716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86664053","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
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature. 沃尔夫-赫希霍恩综合征伴甲状旁腺功能亢进：病例报告与文献综述
IF 0.4
Journal of pediatric genetics Pub Date : 2021-06-26 eCollection Date: 2023-12-01 DOI: 10.1055/s-0041-1729751
Changqing Xia, Dibyendu Kumar, Bei You, Deanna L Streck, Lisa Osborne, James Dermody, Jie-Gen Jiang, Beth A Pletcher
{"title":"Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature.","authors":"Changqing Xia, Dibyendu Kumar, Bei You, Deanna L Streck, Lisa Osborne, James Dermody, Jie-Gen Jiang, Beth A Pletcher","doi":"10.1055/s-0041-1729751","DOIUrl":"10.1055/s-0041-1729751","url":null,"abstract":"<p><p>Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery. She was small for the gestational age (2,045 g) and admitted to neonatal intensive care unit. She had typical WHS facial features and was found to have bilateral small kidneys associated with transient metabolic acidosis and renal insufficiency. She had right-sided sensorineural hearing loss, a small atrial septal defect, and colpocephaly and hypoplasia of corpus callosum. She had a single seizure which was well controlled with an oral antiepileptic medication. Cytogenetic studies demonstrated a large terminal chromosome 4p deletion (21.4 Mb) and 4p duplication (2.1 Mb) adjacent to the deletion. A unique finding in this patient is her consistently elevated levels of parathyroid hormone and serum calcium, suggesting hyperparathyroidism. We present this rare case along with a review of the literature and hope to draw an attention to a potential relationship between WHS and hyperparathyroidism.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10756731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77224433","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
Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome. 一种典型纤毛病的遗传特征:Bardet-Biedl综合征。
IF 0.4
Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-03-31 DOI: 10.1055/s-0040-1708844
Samantha A Kops, Ranjit I Kylat, Shanti Bhatia, Michael D Seckeler, Brent J Barber, Mohammad Y Bader
{"title":"Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome.","authors":"Samantha A Kops,&nbsp;Ranjit I Kylat,&nbsp;Shanti Bhatia,&nbsp;Michael D Seckeler,&nbsp;Brent J Barber,&nbsp;Mohammad Y Bader","doi":"10.1055/s-0040-1708844","DOIUrl":"https://doi.org/10.1055/s-0040-1708844","url":null,"abstract":"<p><p>Bardet-Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS discovered by whole genome sequencing in a newborn with heterotaxy, duodenal atresia, and complex congenital heart disease. Early diagnosis is important not only for prognostication but also to explore ways to mitigate the cone-rod dysfunction and for exploring newer therapies. Our case highlights the importance of a high index of suspicion and the utility of advanced genetic testing to provide an early diagnosis for a rare disease.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1708844","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38906226","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: 1
Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy. 芳香l -氨基酸脱羧酶缺乏症的印度儿童的临床特征和结果:一种原发性脑脊液神经递质障碍，类似于运动障碍脑瘫。
IF 0.4
Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-07-27 DOI: 10.1055/s-0040-1714690
Vykuntaraju K Gowda, Hemadri Vegda, Balamurugan B Nagarajan, Sanjay K Shivappa
{"title":"Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy.","authors":"Vykuntaraju K Gowda,&nbsp;Hemadri Vegda,&nbsp;Balamurugan B Nagarajan,&nbsp;Sanjay K Shivappa","doi":"10.1055/s-0040-1714690","DOIUrl":"https://doi.org/10.1055/s-0040-1714690","url":null,"abstract":"<p><p>Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hence, we are reporting this series with an objective to study profile and outcome of Indian children with AADC deficiency. In this retrospective review, all case records of genetically confirmed cases of AADC deficiency at the pediatric neurology department in a tertiary care hospital, from March 2014 to March 2020, were analyzed. The data were extracted in a predesigned proforma and analyzed. Out of seven cases, five were males. Median age of onset of symptoms was 4 months but median age of diagnosis was 12 months. All of them had developmental delay, oculogyric crisis, dystonia, increased sweating, intermittent fever, feeding and sleep disturbance, irritability, failure to thrive, axial hypotonia with dyskinetic quadriparesis, and normal magnetic resonance imaging (MRI) of brain and electroencephalogram (EEG). All of them were treated with pyridoxal 5-phosphate, trihexyphenidyl and pramipexole and six cases, in addition, were given bromocriptine. One case was additionally treated with selegiline. One case showed good improvement, five showed partial improvement, and one case expired. In conclusion, AADC deficiency should be suspected in any child with dyskinetic quadriparesis, oculogyric crisis, autonomic disturbances like increased sweating, intermittent fever, and sleep disturbance with normal neuroimaging.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110350/pdf/10-1055-s-0040-1714690.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38988421","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: 2
A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation. 新生儿糖尿病因INS基因突变伴母体嵌合体及不典型表现1例。
IF 0.4
Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-05-12 DOI: 10.1055/s-0040-1710341
Varuna Vyas, Deepthi K, Kuldeep Singh
{"title":"A Case of Neonatal Diabetes Mellitus Due to <i>INS</i> Gene Mutation with Maternal Mosaicism and Atypical Presentation.","authors":"Varuna Vyas,&nbsp;Deepthi K,&nbsp;Kuldeep Singh","doi":"10.1055/s-0040-1710341","DOIUrl":"https://doi.org/10.1055/s-0040-1710341","url":null,"abstract":"<p><p>Neonatal diabetes mellitus is a single gene defect that results in diabetes mellitus in the first 6 months of life. We report a child who was diagnosed to be hyperglycemic at 13 months of life and assumed to have type 1 diabetes mellitus and started on insulin. The child came to us at 2 and 1/2 years of age. He had exceptionally good blood glucose control. His history revealed that he was symptomatic with a voracious appetite and poor weight gain since the second half of infancy. Genetic testing revealed a heterozygous mutation of the <i>INS</i> gene (the gene that codes for insulin). The condition has autosomal dominant inheritance. Testing the parents revealed that the mother had 7.8% mosaicism for this variant in her lymphocyte DNA. Though this did not alter the management of the patient, it did help in counseling the parents regarding risk of recurrence in future pregnancies.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110341/pdf/10-1055-s-0040-1710341.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38906231","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
Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery. 一名患有大疱性表皮松解症和吉特曼综合征的青少年患者接受后路脊柱融合手术的麻醉挑战。
IF 0.4
Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-04-25 DOI: 10.1055/s-0040-1710329
Edgar E Kiss, Neethu Chandran, Gijo Alex, Patrick Olomu
{"title":"Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery.","authors":"Edgar E Kiss,&nbsp;Neethu Chandran,&nbsp;Gijo Alex,&nbsp;Patrick Olomu","doi":"10.1055/s-0040-1710329","DOIUrl":"https://doi.org/10.1055/s-0040-1710329","url":null,"abstract":"<p><p>Surgical correction for scoliosis is undertaken to avoid progression to cardiopulmonary compromise as well as improve the patient's overall quality of life. In this case report, we presented a case of a 14-year-old girl with epidermolysis bullosa simplex and Gitelman's syndrome who underwent posterior spinal fusion for scoliosis. The perioperative planning and intraoperative management of a patient with this unique combination of comorbidities undergoing a complex, high-risk surgical procedure were not previously chronicled in the literature. We detailed the steps undertaken to optimize the patient prior to surgery and the unique intraoperative surgical and anesthetic considerations that led to a successful completion of the surgery and recovery.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1710329","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38906230","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
GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil. 巴西南部地区与先天性心脏病相关的GATA 4缺失
IF 0.4
Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-07-29 DOI: 10.1055/s-0040-1714691
Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen
{"title":"<i>GATA</i> 4 Deletions Associated with Congenital Heart Diseases in South Brazil.","authors":"Maiara A Floriani,&nbsp;Andressa B Glaeser,&nbsp;Luiza E Dorfman,&nbsp;Grasiela Agnes,&nbsp;Rafael F M Rosa,&nbsp;Paulo R G Zen","doi":"10.1055/s-0040-1714691","DOIUrl":"https://doi.org/10.1055/s-0040-1714691","url":null,"abstract":"<p><p>The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through the multiplex ligation-dependent probe amplification (MLPA) technique, the presence of CNVs in reference genes for normal cardiac development in patients with CHD. <i>GATA4</i> , <i>NKX2-5</i> , <i>TBX5</i> , <i>BMP4</i> , and <i>CRELD1</i> genes and 22q11.2 chromosome region were analyzed in 207 children with CHD admitted for the first time in a cardiac intensive care unit from a pediatric hospital. CNVs were detected in seven patients (3.4%): four had a 22q11.2 deletion (22q11DS) (1.9%), two had a <i>GATA4</i> deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the <i>NKX2-5</i> , <i>TBX5</i> , <i>BMP4</i> , and <i>CRELD1</i> genes were identified. <i>GATA4</i> deletions appear to be present in a significant number of CHD patients, especially those with septal defects, persistent left superior vena cava, pulmonary artery abnormalities, and extracardiac findings. <i>GATA4</i> screening seems to be more effective when directed to these CHDs. The investigation of CNVs in <i>GATA4</i> and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1714691","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38988422","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: 5
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