A homozygous HOXA11 variation as a potential novel cause of autosomal recessive CAKUT.,Clinical Genetics

当前位置： X-MOL 学术 › Clin. Genet. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

A homozygous HOXA11 variation as a potential novel cause of autosomal recessive CAKUT.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-07-14 , DOI: 10.1111/cge.13813
Seha Saygili ₁ , Emine Atayar ₂ , Nur Canpolat ₁ , Mehmet Elicevik ₃ , Sebuh Kurugoglu ₄ , Lale Sever ₁ , Salim Caliskan ₁ , Fatih Ozaltin _{2,

5}

Affiliation

Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of end‐stage kidney disease in children. Until now, more than 50 monogenic causes for CAKUT have been described, all of which only explain 10% to 20% of all patients with CAKUT, suggesting the presence of additional genes that cause CAKUT when mutated. Herein, we report two siblings of a consanguineous family with CAKUT, both of which rapidly progressed to chronic kidney disease in early childhood. Whole‐exome sequencing followed by homozygosity mapping identified a homozygous variation in HOXA11. We therefore showed for the first time an association between a homozygous HOXA11 variation with CAKUT in humans, expanding the genetic spectrum of the disease.

中文翻译：

纯合的HOXA11变异作为常染色体隐性CAKUT的潜在新原因。

肾脏和尿道先天性异常（CAKUT）是儿童终末期肾脏疾病的主要原因。迄今为止，已经描述了超过50种导致CAKUT的单基因病因，所有这些仅能解释所有CAKUT患者的10％至20％，这表明存在其他在突变时引起CAKUT的基因。在此，我们报告了一个患有CAKUT的近亲家庭的两个兄弟姐妹，他们两个都在儿童早期迅速发展为慢性肾脏疾病。全外显子测序，然后进行纯合作图，确定了HOXA11中的纯合变异。因此，我们首次显示了人体内纯合型HOXA11变异与CAKUT之间的关联，从而扩大了该疾病的遗传谱。

更新日期：2020-07-14

点击分享查看原文

点击收藏

阅读更多本刊最新论文本刊介绍/投稿指南11