作者
Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, Rachid C Maroun, Marie-Lucile Figueres, Stéphanie Leclerc-Mercier, Eric Olinger, Stéphanie Baron, Catherine Chaussain, Dominique Nochy, Rowaida Z Taha, Bertrand Knebelmann, Vandana Joshi, Patrick A Curmi, Marios Kambouris, Rosa Vargas-Poussou, Christine Bodemer, Olivier Devuyst, Pascal Houillier, Hatem El-Shanti
发表日期
2018/2
期刊
Genetics in medicine
卷号
20
期号
2
页码范围
190-201
出版商
Nature Publishing Group
简介
Purpose
We aimed to identify the genetic cause to a clinical syndrome encompassing hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX syndrome), and to comprehensively delineate the phenotype.
Methods
We performed homozygosity mapping, whole-genome sequencing, gene sequencing, expression studies, functional tests, protein bioinformatics, and histological characterization in two unrelated families with HELIX syndrome.
Results
We identified biallelic missense mutations (c. 386C> T, p. S131L and c. 2T> C, p. M1T) in CLDN10B in six patients from two unrelated families. CLDN10B encodes Claudin-10b, an integral tight junction (TJ) membrane-spanning protein expressed in the kidney, skin, and salivary glands. All patients had hypohidrosis, renal loss of NaCl with secondary hyperaldosteronism and hypokalemia, as well as hypolacrymia, ichthyosis …
学术搜索中的文章
S Hadj-Rabia, G Brideau, Y Al-Sarraj, RC Maroun… - Genetics in medicine, 2018