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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, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. CONCLUSIONS:This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

doi

10.1186/s12881-019-0920-x

subject

Has Abstract

pub_date

2019-11-21 00:00:00

pages

187

issue

1

issn

1471-2350

pii

10.1186/s12881-019-0920-x

journal_volume

20

pub_type

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