Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) function.

ABSTRACT:

Introduction

SPRY1 encodes protein sprouty homolog 1 (Spry-1), a negative regulator of receptor tyrosine kinase signalling. Null mutant mice display kidney/urinary tract abnormalities and altered size of the skull; complete loss-of-function of Spry-1 in humans has not been reported.

Methods

Analysis of whole-genome sequencing data from individuals with craniosynostosis enrolled in the 100,000 Genomes Project identified a likely pathogenic variant within SPRY1. Reverse-transcriptase PCR and western blot analysis were used to investigate the effect of the variant on SPRY1 mRNA and protein, in lymphoblastoid cell lines from the patient and both parents.

Results

A nonsense variant in SPRY1, encoding p.(Leu27*), was confirmed to be heterozygous

SUBMITTER: Tooze RS 

PROVIDER: S-EPMC10359576 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature