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Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.

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.

SUBMITTER: Towheed A

PROVIDER: S-EPMC8607452 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature

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Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.

Towheed Atif A Hietanen Christian L CL Kamath Vasudeva G VG Singh Larry N LN Ho Angela A Engelstad Kristin K Cornett Kayla K Montes Jacqueline J De Vivo Darryl D

Annals of clinical and translational neurology 20211006 11

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 ( ...[more]

PMID: 34612606

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