Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

ABSTRACT:

Objective

Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes affecting the central nervous system (CNS). We aimed to clarify the genetic cause in a group of patients characterized by hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy.

Methods

Whole exome sequencing was performed in seven individuals of six unrelated families with these features. Postmortem histopathological and HID1 expression analysis of brain tissue and pituitary gland were conducted in one patient. Functional consequences of the homozygous HID1 variant p.R433W were inve

SUBMITTER: Schanzer A 

PROVIDER: S-EPMC8351430 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature