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Case Reports
. 2019 Nov 21;20(1):187.
doi: 10.1186/s12881-019-0920-x.

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

Sha Zhao  1   2 , Zhenqing Luo  1 , Zhenghui Xiao  1 , Liping Li  1 , Rui Zhao  1 , Yongjia Yang  3 , Yan Zhong  4
Affiliations
Case Reports

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

Sha Zhao et al. BMC Med Genet. .

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.

Keywords: Chinese; Cohen syndrome; Hyperlinear palm; Mutation; VPS13B gene.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Patients with CS in a Chinese family. a Left hand palm of female patient M2651 and b Right hand palm of male patient M2650
Fig. 2
Fig. 2
VPS13B mutations in a Chinese family with CS. a Pedigree. b Chromatograms of VPS13B mutations by Sanger sequencing
Fig. 3
Fig. 3
Schematic presentation of VPS13B mutations in the Chinese population. The arrow represents the mutations identified in the present study
See this image and copyright information in PMC

References

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