scholarly journals VP29.04: Prenatal diagnosis of Leigh disease caused due to novel mutation in ISCA2 gene in nuclear DNA

2021 ◽  
Vol 58 (S1) ◽  
pp. 218-218
Author(s):  
P. Asegaonkar
Keyword(s):  
Prenatal Diagnosis ◽  
Nuclear Dna ◽  
Novel Mutation ◽  
Leigh Disease

scholarly journals Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Yanan Zong ◽  
Ning Liu ◽  
Zhenhua Zhao ◽  
Xiangdong Kong
Keyword(s):  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Genetic Sequencing

Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease

2009 ◽  
Vol 32 (S1) ◽  
pp. 33-36 ◽  
Author(s):  
R. Tammachote ◽  
S. Tongkobpetch ◽  
T. Desudchit ◽  
K. Suphapeetiporn ◽  
V. Shotelersuk
Keyword(s):  
Prenatal Diagnosis ◽  
Maple Syrup Urine Disease ◽  
Novel Mutation ◽  
Maple Syrup ◽  
Urine Disease

scholarly journals Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

2021 ◽  
Vol 12 ◽  
Author(s):  
Li Zhang ◽  
Haoran Hu ◽  
Desheng Liang ◽  
Zhuo Li ◽  
Lingqian Wu
Keyword(s):  
Prenatal Diagnosis ◽  
Missense Mutation ◽  
Novel Mutation ◽  
Rare Condition ◽  
Bioinformatic Analysis ◽  
Functional Study ◽  
Chondrodysplasia Punctata ◽  
Enzymatic Assays ◽  
Whole Exome ◽  
Function Loss

X-Linked recessive chondrodysplasia punctata (CDPX1) is a rare skeletal dysplasia characterized by stippled epiphyses, brachytelephalangy, and nasomaxillary hypoplasia. CDPX1 is caused by function loss of arylsulfatase E (ARSE, also known as ARSL). Pathogenic mutations in ARSE are responsible for CDPX1 in newborns or adults; however, studies have not fully explored prenatal cases. In the current study, a novel missense mutation (c.265A > G) in ARSE was identified in a fetus with short limbs using whole-exome sequencing (WES). Bioinformatic analysis showed that the variant was pathogenic, and RT-qPCR, Western blot, and enzymatic assays were performed to further explore pathogenicity of the variant. The findings showed that the variant decreased transcription and protein expression levels and led to loss of enzymatic activity of the protein. The novel mutation c.265A > G in ARSE was thus the genetic cause for the phenotype presented by the fetus. The current study presents a prenatal case in Chinese population using functional analysis of ARSE, which helps the family to predict recurrence risks for future pregnancies and provides more information for understanding this rare condition. The findings show that WES is a feasible method for prenatal diagnosis of fetuses with CDPX1.

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

Gene ◽  
2013 ◽  
Vol 512 (2) ◽  
pp. 189-193 ◽  
Author(s):  
Ender Karaca ◽  
Elif Karakoc-Aydiner ◽  
Omer Faruk Bayrak ◽  
Sevgi Keles ◽  
Serhat Sevli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Immunodeficiency Disorder ◽  
Turkish Family

A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency

2002 ◽  
Vol 17 (3) ◽  
pp. 233-236 ◽  
Author(s):  
Claudio Bruno ◽  
Roberta Biancheri ◽  
Barbara Garavaglia ◽  
Claudia Biedi ◽  
Andrea Rossi ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Novel Mutation ◽  
Oxidase Deficiency ◽  
Leigh Disease ◽  
Cytochrome C Oxidase Deficiency

scholarly journals A Novel USH2A Variant in a Patient with Hearing Loss and Prenatal Diagnosis of a Familial Fetus: a Case Report and Literature Review

2020 ◽  
Author(s):  
Cong Zhou ◽  
Yuanyuan Xiao ◽  
Hanbing Xie ◽  
Shanling Liu ◽  
Jing Wang
Keyword(s):  
Hearing Loss ◽  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Relevant Literature ◽  
Usher Syndrome ◽  
Genetic Diagnosis ◽  
Screening Strategy ◽  
Chinese Patient ◽  
Gene Panel ◽  
Compound Heterozygous

Abstract Background: Usher syndrome (USH) is the most common cause of inherited deaf-blindness. This study aimed to identify pathogenic mutations in a Chinese patient with hearing loss and reviewed the relevant literature.Methods: Genomic DNA obtained from a five-year-old girl with hearing loss was analyzed via the disease-targeted gene panel. Results: We identified the compound heterozygous mutations c.8559-2A>G and c.4749delT in Usher syndrome type 2A (USH2A) gene as the underlying cause of the familial hearing loss; the former variation has been reported in the literature, but not the latter. The parents of the girl were heterozygous carriers. The two variants were pathogenic. Based on these findings, amniotic fluid samples were used for prenatal diagnosis of the couple's fetus, which was found to carry c.4749delT but not c.8559-2A>G variation. During the follow-up period of more than 9 months after the birth of the fetus, it was confirmed that the infant was healthy.Conclusions: We performed genetic diagnosis of Usher syndrome by disease-targeted gene panel and have proven that this method can serve as a rapid, high-throughput, and efficient screening strategy. The novel mutation expands the spectrum of USH2A variants in USH.

Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene

2014 ◽  
Vol 36 (3) ◽  
pp. 264-267 ◽  
Author(s):  
Tong-Fei Wu ◽  
Yu-Peng Liu ◽  
Xi-Yuan Li ◽  
Qiao Wang ◽  
Jin-Qing Song ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Chinese Family
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