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Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.

Abstract：

:Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with recessively inherited variants in Neurogenin-3 (NEUROG3) gene. Here we investigate a case of a male infant who presented with mysterious severe malabsorptive diarrhea since birth. Thorough clinical assessments and laboratory tests were successful to exclude the majority of differential diagnosis categories. However, the patient's diagnosis was not established until the genetic test using whole-exome sequencing (WES) was performed. We identified a novel homozygous missense disease-causing variant (DCV) in NEUROG3 (c.413C>G, p.Thr138Arg). Moreover, molecular dynamic simulation analysis showed that (p.Thr138Arg) led to a global change of the NEUROG3 orientation affecting its DNA binding capacity. To the best of our knowledge, this is the first time to apply WES to reach a differential diagnosis of patients with CODEs. Our study not only expands our knowledge about NEUROG3 variants and their clinical consequences but also proves that WES is a very effective tool for the diagnosis of CODEs. This might be of value in early diagnosis of diseases and prenatal CODEs detection.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Azab B,Dardas Z,Rabab'h O,Srour L,Telfah H,Hatmal MM,Mustafa L,Rashdan L,Altamimi E

doi

10.1016/j.ejmg.2020.103981

subject

Has Abstract

pub_date

2020-09-01 00:00:00

pages

103981

issue

9

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(20)30284-6

journal_volume

63

pub_type

杂志文章

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