Cohen syndrome due to a novel VPS13B mutation in a Chinese family

Autor: Shu-ying Cai, Pei Li, Shu-xiang Hu, Hui-qiang Cai, Wen-jie Li, Gui-lan Peng
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Journal of Neurorestoratology, Vol 10, Iss 2, Pp 100003-100003 (2022)
Druh dokumentu: article
ISSN: 2324-2426
DOI: 10.1016/j.jnrt.2022.100003
Popis: We present the case of a novel homozygous nonsense (c.4846C > T [p.R1616X]) mutation in the VPS13B in a Chinese boy with the primary symptoms of Cohen syndrome. This case presented with manifestations consistent with Cohen syndrome, including developmental delay, microcephaly, typical facial features, short stature, muscle hypotonia, neutropenia, and abnormal dental development; however, the patient did not have the typical findings of obesity, myopia, progressive retinal dystrophy, or epilepsy. The patient had a homozygous nonsense mutation (NM_017890: c.4846C > T [p.R1616X]). His brother, sister, and parents are heterozygous for the mutation. This locus variation has not been previously reported in Chinese children. Different mutation sites have different phenotypes. Cohen syndrome caused by a homozygous nonsense mutation of the VPS13B c.4846C > T (p.R1616X) does not present with obesity, ophthalmic abnormalities, or epilepsy, but has abnormal dental development. This may be related to the premature termination of peptide synthesis caused by nonsense mutations at this site.
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