Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.

ABSTRACT:

Objective

To describe clinical, laboratory, and genetic characteristics of three unrelated cases from Chile, Portugal, and Saudi Arabia with severe insulin resistance, SOFT syndrome, and biallelic pathogenic POC1A variants.

Design

Observational study.

Methods

Probands' phenotypes, including short stature, dysmorphism, and insulin resistance, were compared with previous reports.

Results

Cases 1 (female) and 3 (male) were homozygous for known pathogenic POC1A variants: c.649C>T, p.(Arg217Trp) and c.241C>T, p.(Arg81*), respectively. Case 2 (male) was compound heterozygous for p.(Arg217Trp) variant and the rare missense variant c.370G>A, p.(Asp124Asn). All three cases exhibited severe insulin resistance, acanthosis nigricans, elevated serum triglycerides and decrea

SUBMITTER: Mericq V 

PROVIDER: S-EPMC9010808 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature