印度一名患有严重小头畸形的 LIG4 综合征患者的 LIG4 基因新型复合杂合突变:病例报告、模拟分析和系统综述。

IF 1.3 Q3 PEDIATRICS
Amit Singh, Sabyasachi Senapati, I. Panigrahi, P. Khetarpal
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引用次数: 0

摘要

背景LIG4 综合征以免疫缺陷、对电离辐射敏感、宫内发育迟缓、出生后发育迟缓和小头畸形为特征,是一种由 LIG4 基因致病变体引起的罕见遗传性疾病。我们在此介绍一名患有严重小头畸形和身材矮小的 2 岁 4 个月男婴。他出生时体重为 1.9 千克,目前身高、体重和头围分别为 83.2 厘米(z score = -2.37)、9.5 千克(z score = -2.76)和 36 厘米(z score = -9.24)。通过对患者及其父母的 DNA 进行全外显子组测序,确定了从父母处遗传的 LIG4 基因的复合杂合变体可能具有致病性。此外,还对文献进行了系统回顾,总结了世界各地报道的 LIG4 综合征患者,并归纳了与之相关的 LIG4 基因突变。研究发现了 LIG4 基因的复合杂合变体(c.597_600delTCAG/ c.342del)。结论 通过对已发现变异的内部分析,解释了这些变异对 LIG4 蛋白结构和功能的影响,从而解释了基因型与表型之间的相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Novel Compound Heterozygous Mutations of LIG4 Gene in an Indian LIG4 Syndrome Patient with Severe Microcephaly: Case Report, In-silico Analysis and Systematic Review.
BACKGROUND LIG4 syndrome, characterized by immunodeficiency, sensitivity to ionizing radiations, intrauterine growth retardation, postnatal growth retardation, and microcephaly, is a rare genetic disorder caused by pathogenic variants of the LIG4 gene. Few patients are presented with no immune dysregulation as well. CASE STUDY We present here a male child of 2 years and 4 months of age with severe microcephaly and short stature. His birth weight was 1.9 Kg, and his current height, weight, and head circumference are 83.2 cm (z score = -2.37), 9.5 Kg (z score = -2.76), and 36 cm (z score = -9.24), respectively. Possible causative pathogenic compound heterozygous variants of the LIG4 gene, which were inherited from the parents, were identified by whole exome sequencing of the DNA of the patient and his parents. A systematic review of the literature is also performed to summarize the patients of LIG4 syndrome reported worldwide and summarize the associated genetic mutations of the LIG4 gene. Compound heterozygous variants (c.597_600delTCAG/ c.342del) of LIG4 gene were identified. The parents were found to be heterozygous carriers of one variant each. CONCLUSION The in-silico analysis of identified variants explains their effect on the structure and function of the LIG4 protein hence explaining the genotype-phenotype correlation.
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来源期刊
CiteScore
4.30
自引率
0.00%
发文量
66
期刊介绍: Current Pediatric Reviews publishes frontier reviews on all the latest advances in pediatric medicine. The journal’s aim is to publish the highest quality review articles dedicated to clinical research in the field. The journal is essential reading for all researchers and clinicians in pediatric medicine.
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