1例常染色体隐性多囊肾病PDIA6突变的鉴定:1例报告及文献复习。

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Reem H Al-Hadidi, Lina A Abu Sirhan
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引用次数: 0

摘要

常染色体隐性多囊肾病(ARPKD)是一种罕见但严重的遗传性肾脏疾病,以双侧肾脏肿大、囊性肾脏和不同程度的肝纤维化为特征,常导致早发性肾衰竭和显著的发病率。虽然大多数ARPKD病例与PKHD1基因突变有关,但基因组测序的最新进展表明,包括PDIA6在内的其他基因突变可能导致类似的表型。PDIA6基因编码蛋白质二硫异构酶A6,该酶在内质网(ER)内的蛋白质折叠和内质网应激反应的调控中起关键作用。在这里,我们报告一个罕见而复杂的病例,一个由近亲叙利亚难民父母所生的足月男婴,他的临床表现包括多囊肾病、严重羊水过少、肺发育不全、小头畸形、胸廓发育不良和整体发育迟缓。使用全外显子组测序的遗传分析发现PDIA6的外显子5存在纯合子双碱基缺失,导致过早停止密码子。通过基因组工具进行早期诊断对于预后、管理和遗传咨询至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Identification of PDIA6 Mutation in a Case of Autosomal Recessive Polycystic Kidney Disease: A Case Report and Review of Literature.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare but severe hereditary renal disorder characterized by bilaterally enlarged, cystic kidneys and varying degrees of hepatic fibrosis, often leading to early-onset kidney failure and significant morbidity. While most ARPKD cases are linked to mutations in the PKHD1 gene, recent advances in genomic sequencing have revealed that mutations in other genes, including PDIA6, may contribute to similar phenotypes. The PDIA6 gene encodes protein disulfide isomerase A6, which plays a critical role in protein folding within the endoplasmic reticulum (ER) and in the regulation of ER stress responses. Here, we report a rare and complex case of a full-term male neonate born to consanguineous Syrian refugee parents, who presented with a clinical constellation of features including polycystic kidney disease, severe oligohydramnios, pulmonary hypoplasia, microcephaly, rib thoracic dysplasia, and global developmental delay. Genetic analysis using whole-exome sequencing identified a homozygous two-base deletion in exon 5 of the PDIA6, resulting in a premature stop codon. Early diagnosis via genomic tools is essential for prognosis, management, and genetic counseling.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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