rare mutation in PRUNE 1- gene causing a neurodevelopmental disease with rare systemic manifestations in a Saudi child

Abstract

PRUNE 1- related disorder, is a neurodevelopmental problem characterized by microcephaly, hypotonia, and variable central nervous system abnormalities, it is a unique uncommon autosomal recessive disease caused by a homozygous or compound heterozygous mutation in the PRUNE1 gene on chromosome 1q21.4. Here we report a 15 months old girl who presented with characteristic features compatible with Prune syndrome informed of severe developmental delay, progressive microcephaly, hypertelorism, micrognathia and low set ears. The neurological evaluation revealed profound central hypotonia and spastic limbs with increased deep tendon reflexes. At the age of 15 months, she became more flaccid, with multiple hospitalizations because of recurrent aspiration, refractory seizure and severe gastroesophageal reflux disease. Eye examination showed severe optic atrophy. Further molecular genetic analysis revealed a homozygous variant c.383G>A – P(Arg128Gln)-chr1:150997134.