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 de...

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Autores principales:	Atif Towheed, Christian L. Hietanen, Vasudeva G. Kamath, Larry N. Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765fa
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spelling	oai:doaj.org-article:76ec6d54b97e41acb9c8cb990d4765fa2021-11-22T11:11:52ZHypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression2328-950310.1002/acn3.51464https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765fa2021-11-01T00:00:00Zhttps://doi.org/10.1002/acn3.51464https://doaj.org/toc/2328-9503Abstract 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.Atif TowheedChristian L. HietanenVasudeva G. KamathLarry N. SinghAngela HoKristin EngelstadKayla CornettJacqueline MontesDarryl De VivoWileyarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENAnnals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2199-2204 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Atif Towheed Christian L. Hietanen Vasudeva G. Kamath Larry N. Singh Angela Ho Kristin Engelstad Kayla Cornett Jacqueline Montes Darryl De Vivo Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
description	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.
format	article
author	Atif Towheed Christian L. Hietanen Vasudeva G. Kamath Larry N. Singh Angela Ho Kristin Engelstad Kayla Cornett Jacqueline Montes Darryl De Vivo
author_facet	Atif Towheed Christian L. Hietanen Vasudeva G. Kamath Larry N. Singh Angela Ho Kristin Engelstad Kayla Cornett Jacqueline Montes Darryl De Vivo
author_sort	Atif Towheed
title	Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
title_short	Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
title_full	Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
title_fullStr	Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
title_full_unstemmed	Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
title_sort	hypotonia–cystinuria 2p21 deletion syndrome: intrafamilial variability of clinical expression
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765fa
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Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

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