Journal of pediatric genetics最新文献_第9页

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

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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":"GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil.","authors":"Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen","doi":"10.1055/s-0040-1714691","DOIUrl":"https://doi.org/10.1055/s-0040-1714691","url":null,"abstract":"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. GATA4 , NKX2-5 , TBX5 , BMP4 , and CRELD1 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 GATA4 deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the NKX2-5 , TBX5 , BMP4 , and CRELD1 genes were identified. GATA4 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. GATA4 screening seems to be more effective when directed to these CHDs. The investigation of CNVs in GATA4 and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"92-97"},"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

Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt. 上埃及枫糖浆尿病的临床、生化、分子和治疗分析

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-08-10 DOI: 10.1055/s-0040-1715111

Marwa A Dahpy, Tahia H Saleem, Osama M El-Asheer, Ahmed Abd ELrasoul, Amir M Abo Elgeit

{"title":"Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt.","authors":"Marwa A Dahpy, Tahia H Saleem, Osama M El-Asheer, Ahmed Abd ELrasoul, Amir M Abo Elgeit","doi":"10.1055/s-0040-1715111","DOIUrl":"https://doi.org/10.1055/s-0040-1715111","url":null,"abstract":"Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in any of the genes encoding for the branched-chain keto dehydrogenase (BCKDH) components. This study screened MSUD patients throughout the whole Upper Egypt describing their symptoms, clinical and laboratory findings, genetic studies, and their treatment, with a 6-month follow-up for their responses. Screening identified three children with MSUD. Homozygous mutation in R195Q single nucleotide polymorphism (SNP) within the BCKDHA gene was found with the second MSUD patient. Follow-up for 6 months to assess the treatment regimens and progression of cases demonstrated that early treatment regimens including a dietary restriction of branched-chain amino acids with L-Carnitine administration could prevent MSUD-associated intellectual disabilities. It was concluded that R195Q SNP is pathogenic, and it may cause inherited forms of MSUD in some patients. MSUD cases have rarely been reported; so these findings will be highly useful for future cases of MSUD in the Upper Egyptian population.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"116-125"},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1715111","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38906225","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

Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant. 与18q23缺失相关的埃及女婴新生11p14.3-p15.5重复的临床和细胞基因组学特征

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-04-21 DOI: 10.1055/s-0040-1708554

Hanan H Afifi, Ghada Y El-Kamah, Alaa K Kamel, Sally G Abd Allah, Sayda Hammad, Mohammed M Sayed-Ahmed, Shymaa H Hussein, Amal M Mohamed

{"title":"Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.","authors":"Hanan H Afifi, Ghada Y El-Kamah, Alaa K Kamel, Sally G Abd Allah, Sayda Hammad, Mohammed M Sayed-Ahmed, Shymaa H Hussein, Amal M Mohamed","doi":"10.1055/s-0040-1708554","DOIUrl":"https://doi.org/10.1055/s-0040-1708554","url":null,"abstract":"Paternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith-Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental delay. We describe a 15-month-old girl presenting with protruding tongue, dysmorphic facial features, moderate developmental delay, umbilical hernia, hypotonia, mild-to-moderate pulmonary hypertension, small patent ductus arteriosus, and mild ventricular septal hypertrophy. Brain magnetic resonance imaging showed mild atrophic changes. Chromosomal analysis revealed 46, XX, add(18)(q23). Fluorescence in situ hybridization using subtelomere 18q and whole chromosome painting 18 showed subtelomere deletion in 18q, and the add segment was not derived from chromosome 18. Microarray-based comparative genomic hybridization detected a 22 Mb duplication of chromosome 11p15.5p14.3 and a 3.7 Mb deletion of chromosome 18q23. The phenotype of the chromosomal rearrangements is probably resulted from a combination of dosage-sensitive genes. Our patient had clinical manifestations of both 18q deletion and BWS.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"131-138"},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110358/pdf/10-1055-s-0040-1708554.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38906227","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 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