Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

ABSTRACT:

Background

Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China.

Case presentation

A Chinese family with two offspring-patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition,

SUBMITTER: Zhao S 

PROVIDER: S-EPMC6873578 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature