Hypotonia-cystinuria 2p21 Deletion Syndrome: Intrafamilial Variability of Clinical Expression

Overview

Journal Ann Clin Transl Neurol

Specialty Neurology

Date 2021 Oct 6

PMID 34612606

Authors

Atif Towheed

Christian L Hietanen

Vasudeva G Kamath

Larry N Singh

Angela Ho

Kristin Engelstad

Kayla Cornett

Jacqueline Montes

Darryl De Vivo

Affiliations

Soon will be listed here.

Abstract

Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral disturbances. Biopsied muscle studies demonstrated deficient cytochrome c oxidase activities consistent with a mitochondrial disease. Whole exome sequencing (WES), however, revealed a homozygous 2p21 deletion involving two contiquous genes, SLC3A1 (deletion of exons 2-10) and PREPL (deletion of exons 2-14). The molecular findings were consistent with the hypotonia-cystinuria 2p21 deletion syndrome, presenting similarly in infancy with mitochondrial dysfunction but diverging later in childhood and displaying intrafamilial phenotypic variability.

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