Journal of pediatric genetics最新文献_第9页

Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees. 与Charcot-Marie-Tooth 4C和家族内变异有关的新突变:不要只见树木不见森林。

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-04-29 DOI: 10.1055/s-0040-1709695

Maria Gogou, Evangelos Pavlou, Vasilios Kimiskidis, Konstantinos Kouskouras, Efterpi Pavlidou, Theophanis Papadopoulos, Katerina Haidopoulou, Liana Fidani

引用次数: 0

Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children. 蛋白酶体基因的多态性可能是儿童患全身性自身免疫性疾病的风险因素之一

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-08-04 DOI: 10.1055/s-0040-1714697

Ivan Y Bakutenko, Irena D Hileuskaya, Natalia V Nikitchenko, Elena V Sechko, Alexej M Tchitchko, Galina M Batyan, Alexander V Sukalo, Nadezhda I Ryabokon

引用次数: 0

Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature. 儿童交替性偏瘫：来自印度南部的四例遗传学确诊病例及已发表文献综述。

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-08-13 DOI: 10.1055/s-0040-1714702

Naveen Kumar Bhardwaj, Vykuntaraju K Gowda, Ashwin Vivek Sardesai

引用次数: 0

Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1. 全外显子组测序为一例纹状骨病合并颅硬化提供了正确的诊断:AMER1中一个新的移码突变的病例报告。

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-04-21 DOI: 10.1055/s-0040-1710058

José María García-Aznar, Noelia Ramírez, David De Uña, Elisa Santiago, Lorenzo Monserrat

{"title":"Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1.","authors":"José María García-Aznar, Noelia Ramírez, David De Uña, Elisa Santiago, Lorenzo Monserrat","doi":"10.1055/s-0040-1710058","DOIUrl":"https://doi.org/10.1055/s-0040-1710058","url":null,"abstract":"The diagnosis of rare diseases with multisystem manifestations can constitute a difficult process that delays the determination of the underlying cause. Whole exome sequencing (WES) provides a suitable option to examine multiple target genes associated with several disorders that display common features. In this study, we report the case of a female patient suspected of having Sotos syndrome. Screening for the initially selected genes, considering Sotos syndrome and Sotos-like disorders, did not identify any pathogenic variants that could explain the phenotype. The extended analysis, which considered all genes in the exome associated with features consistent with those shown by the studied patient, revealed a novel frameshift variant in the AMER1 gene, responsible for osteopathia striata with cranial sclerosis. WES analysis and an updated revision of previously reported disease-causing mutations, proved useful to reach an accurate diagnosis and guide further examination to identify critical abnormalities.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"139-146"},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1710058","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38906228","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

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia. 一种新的纯合移码WDR81突变与小缺脑症、胼胝体发育不全和桥小脑发育不全有关。

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-05-28 DOI: 10.1055/s-0040-1712916

Tibor Kalmár, Katalin Szakszon, Zoltán Maróti, Alíz Zimmermann, Adrienn Máté, Melinda Zombor, Csaba Bereczki, László Sztriha

引用次数: 1

A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3' - Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay. 与小头畸形、癫痫和发育迟缓相关的多核苷酸激酶3′-磷酸酶基因c.968C > T纯合突变

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-05-12 DOI: 10.1055/s-0040-1710540

Carlos Marcilla Vázquez, María Del Carmen Carrascosa Romero, Andrés Martínez Gutiérrez, María Baquero Cano, Blanca Alfaro Ponce, María Jesús Dabad Moreno

引用次数: 0

Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center. 沙特患者3-羟基-3-甲基戊二酰辅酶- a裂解酶缺乏的肝脏表现:三级保健中心的经验

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-07-29 DOI: 10.1055/s-0040-1714698

Sinan Holdar, Zuhair Rahbeeni, Khushnooda Ramzan, Faiqa Imtiaz

{"title":"Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center.","authors":"Sinan Holdar, Zuhair Rahbeeni, Khushnooda Ramzan, Faiqa Imtiaz","doi":"10.1055/s-0040-1714698","DOIUrl":"https://doi.org/10.1055/s-0040-1714698","url":null,"abstract":"3-Hydroxy-3-methylglutaryl-coenzyme-A lyase (HMGCL) deficiency, a rare autosomal recessive disorder, is caused by a homozygous or compound heterozygous mutation in the HMGCL gene (chromosome 1p36.11). HMGCL catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Several studies have reported general hepatic findings (e.g., hepatomegaly) in patients with HMGCL deficiency, but currently, there are no available data regarding the incidence and epidemiology of liver involvement. The main objective of our study was to investigate the overall clinical manifestations, laboratory findings, genotype, and presence of hepatic involvement in Saudi patients with HMGCL deficiency. A retrospective chart review of patients with HMGCL deficiency including those with a documented hepatic manifestation was performed at the King Faisal Specialist Hospital & Research Centre in Riyadh, Saudi Arabia. We evaluated 50 cases of HMGCL deficiency. Hepatic findings were found in 17 patients at the time of diagnosis. The mean age of hepatic presentation was 135 days, and the median age was 56 days (range: 2-315 days). Hepatomegaly was found in 65%, abnormal biochemical profile in 47%, and an abnormal imaging in 53% of patients. The most frequent mutation in this cohort was the p.Arg41Gln founder mutation (59%). In comparison to data from the current literature, HMGCL deficiency can be considered as a diagnostic metabolite for hepatic manifestations and requires appropriate evaluation, including molecular genetic analysis.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"105-110"},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1714698","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38988424","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

Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town. 在开普敦选定的SUDI队列中对43个心律失常基因进行大规模平行测序。

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Journal of pediatric genetics Pub Date : 2021-04-14 eCollection Date: 2022-12-01 DOI: 10.1055/s-0041-1726471

Laura Jane Heathfield, Hugh Watkins, Lorna Jean Martin, Raj Ramesar

{"title":"Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town.","authors":"Laura Jane Heathfield, Hugh Watkins, Lorna Jean Martin, Raj Ramesar","doi":"10.1055/s-0041-1726471","DOIUrl":"https://doi.org/10.1055/s-0041-1726471","url":null,"abstract":"Sudden unexpected death in infants (SUDI) is a devastating event, and unfortunately occurs frequently in developing countries. The emerging molecular autopsy has added value to post-mortem investigations, where genetic variants were able to explain the unexpected demise. Many of these variants have been found in genes involved in arrythmia pathways. The aim of this study was to sequence 43 genes previously associated with cardiac arrhythmia in a selected cohort of SUDI cases ( n = 19) in South Africa. A total of 335 variants were found among the 19 infants, of which four were novel. The variants were classified as \"likely pathogenic\" ( n = 1), \"variant of unknown significance\" ( n = 54), \"likely benign\" ( n = 56) or \"benign\" ( n = 224). The likely pathogenic variant was LMNA NM_170707.2:c.1279C > T (p.Arg427Cys) and was found in a 3-week-old male infant of African ancestry. Variants in LMNA have previously been associated with dilated cardiomyopathy, with a typical age of onset in adulthood; therefore, this may be the first report in an infant. The yield of pathogenic or likely pathogenic variants in the classic genes typically associated with channelopathies and sudden death, was less in this study compared with other settings. This finding highlights the importance of population-specific research to develop a molecular autopsy which is locally relevant.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 4","pages":"292-297"},"PeriodicalIF":0.4,"publicationDate":"2021-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578775/pdf/10-1055-s-0041-1726471.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40562272","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

Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis. 外显子组测序揭示先天性脊柱侧凸的从头变异。

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Journal of pediatric genetics Pub Date : 2021-04-14 eCollection Date: 2022-12-01 DOI: 10.1055/s-0041-1726282

Kohei Murakami, Shingo Kikugawa, Shoji Seki, Hidetomi Terai, Takako Suzuki, Masaki Nakano, Jun Takahashi, Yukio Nakamura

{"title":"Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis.","authors":"Kohei Murakami, Shingo Kikugawa, Shoji Seki, Hidetomi Terai, Takako Suzuki, Masaki Nakano, Jun Takahashi, Yukio Nakamura","doi":"10.1055/s-0041-1726282","DOIUrl":"https://doi.org/10.1055/s-0041-1726282","url":null,"abstract":"Congenital scoliosis (CS) is a lateral curvature of the spine characterized by the presence of vertebral anomalies. Pathogenic genetic variants in the TBX6 gene are one of the causes of CS. However, since many clinically diagnosed cases of CS are without known TBX6 gene variations, this study aims to uncover new genes related to disease susceptibility of CS by exome sequencing (ES). This study employed ES in a cohort of 5 Japanese patients with CS and their healthy parents or a sister for a total of 16 samples among 5 families. Variant interpretation was performed using SIFT, PolyPhen-2, Mutation Taster, and CADD. Four de novo variants were identified by ES and confirmed by Sanger sequencing: 1 frameshift variant ( SHISA3 ) and 3 missense variants ( AGBL5 , HDAC4 , and PDE2A ). ES also uncovered 1 homozygous variant in the MOCOS gene. All of these variants were predicted to be deleterious by SIFT, PolyPhen-2, Mutation Taster, and/or CADD. The number of de novo variants identified in this study was exactly what would be expected by chance. Additional functional studies or gathering matched patients using Gene Matcher are needed.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 4","pages":"287-291"},"PeriodicalIF":0.4,"publicationDate":"2021-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578779/pdf/10-1055-s-0041-1726282.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40562275","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

Short Stature Syndromes: Case Series from India. 身材矮小综合症：印度病例系列。

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Journal of pediatric genetics Pub Date : 2021-04-14 eCollection Date: 2022-12-01 DOI: 10.1055/s-0041-1726037

Inusha Panigrahi, Parminder Kaur, Chakshu Chaudhry, Mohd Shariq, Devika D Naorem, B C Gowtham, Anupriya Kaur, Devi Dayal

{"title":"Short Stature Syndromes: Case Series from India.","authors":"Inusha Panigrahi, Parminder Kaur, Chakshu Chaudhry, Mohd Shariq, Devika D Naorem, B C Gowtham, Anupriya Kaur, Devi Dayal","doi":"10.1055/s-0041-1726037","DOIUrl":"10.1055/s-0041-1726037","url":null,"abstract":"Syndromes causing short stature include Noonan syndrome (NS), Williams syndrome, and Silver-Russell syndrome (SRS). SRS is a primordial dwarfism with genetic heterogeneity. The SRS children present with prenatal growth retardation, neonatal hypoglycemia, feeding difficulties, physical asymmetry, with scoliosis and cardiac defect in some cases. The incidence is up to 1 in 100,000. Uniparental disomy, methylation abnormalities, and variants in some genes have been found underlying such phenotype. Growth hormone therapy has been used to improve the height gain in these patients. NS has genetic heterogeneity and most patients present with short stature with or without cardiac defect. Multiple genetic variants, mostly autosomal dominant, contribute to the phenotype. With the availability of next-generation sequencing, more and more genetic disorders causing short stature are being identified in different ethnic populations like Kabuki syndrome and Nance-Horan syndrome. Here, we present some cases of SRS and other additional syndromes with dysmorphism seen in past 5 years.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 4","pages":"279-286"},"PeriodicalIF":0.4,"publicationDate":"2021-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578783/pdf/10-1055-s-0041-1726037.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40577392","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