Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Abstract:

:Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They showed features of EvC syndrome and were clinically and genetically characterized. In family A, the affected members showed an additional feature of profound deafness. The whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. This study reports first case of variants in the genes causing EvC syndrome and profound deafness in the same family.

journal_name

J Genet

journal_title

Journal of genetics

authors

Umair M,Seidel H,Ahmed I,Ullah A,Haack TB,Alhaddad B,Jan A,Rafique A,Strom TM,Ahmad F,Meitinger T,Ahmad W

doi

10.1007/s12041-017-0868-6

subject

Has Abstract

pub_date

2017-12-01 00:00:00

pages

1005-1014

issue

6

eissn

0022-1333

issn

0973-7731

journal_volume

96

pub_type

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