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

التفاصيل البيبلوغرافية
العنوان: Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
المؤلفون: Atif Towheed, Christian L. Hietanen, Vasudeva G. Kamath, Larry N. Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2199-2204 (2021)
بيانات النشر: Wiley, 2021.
سنة النشر: 2021
المجموعة: LCC:Neurosciences. Biological psychiatry. Neuropsychiatry
LCC:Neurology. Diseases of the nervous system
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2328-9503
العلاقة: https://doaj.org/toc/2328-9503Test
DOI: 10.1002/acn3.51464
الوصول الحر: https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765faTest
رقم الانضمام: edsdoj.76ec6d54b97e41acb9c8cb990d4765fa
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:23289503
DOI:10.1002/acn3.51464