Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture.

ABSTRACT:

Background

Gain-of-function pathogenic variants of the Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene contribute to the occurrence and development of a variety of human carcinomas through activation of phosphatidylinositol 3-kinase (PI3K)/AKT and extracellular signal-regulated kinase (ERK) signaling. ERBB3 gene homozygous germline variants, whose loss of function may cause autosomal recessive congenital contractural syndrome, were recently identified. This study aims to identify the disease-causing gene in a Chinese pedigree with variable phenotypes involving multiple systems, including developmental delay, postnatal growth retardation, transient lower limb asymmetry, facial malformations, atrioventricular canal malformation, bilateral nystagmus and amblyopia, feeding difficulties,

SUBMITTER: Li N 

PROVIDER: S-EPMC6868814 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature