Clinical and genetic features of a case with juvenile onset sandhoff disease

Autor:	Jin-Hui Yin, Wen-Zheng Hu, Yue Huang
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	Sandhoff disease Ataxia HEXB Copy number variation (CNV) variant Hemizygous variation Neurology. Diseases of the nervous system RC346-429
Zdroj:	BMC Neurology, Vol 23, Iss 1, Pp 1-7 (2023)
Druh dokumentu:	article
ISSN:	1471-2377 02824337
DOI:	10.1186/s12883-023-03267-7
Popis:	Abstract Background Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed in clinics. Therein, it is necessary to provide more cases and review the literature on juvenile onset SD. Case presentation A 14 years-old boy with eight years of walking difficulties, and was ever misdiagnosed as spinocerebellar ataxia. We found this patient after genetic testing carried rs201580118 and a novel gross deletion in HEXB (g.74012742_74052694del). Through review the literature, we found that was the first gross deletion identified at the 3’end of HEXB, associated with juvenile onset SD from China. Conclusion This case expanded our knowledge about the genotype and phenotype correlations in SD. Comprehensive genetic testing is important for the diagnosis of unexplained ataxia.
Databáze:	Directory of Open Access Journals
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