A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

ABSTRACT:

Background

Isolated growth hormone deficiency (IGHD) is caused by a severe shortage or absence of growth hormone (GH), which results in aberrant growth and development. Patients with IGHD type IV (IGHD4) have a short stature, reduced serum GH levels, and delayed bone age.

Objectives

To identify the causative mutation of IGHD in a consanguineous family comprising four affected patients with IGHD4 (MIM#618157) and explore its functional impact in silico.

Methods

Clinical and radiological studies were performed to determine the phenotypic spectrum and hormonal profile of the disease, while whole-exome sequencing (WES) and Sanger sequencing were performed to identify the disease-causing mutation. In-silico studies involved protein structural modeling and doc

SUBMITTER: Ahmad S 

PROVIDER: S-EPMC10029353 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature