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      https://www.ias.ac.in/article/fulltext/jgen/096/06/1005-1014

    • Keywords

       

      EvC syndrome; profound deafness; whole exome sequencing; EVC gene; EVC2 gene; TMC1 gene; biallelic variants; compound heterozygous variants.

    • 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 anadditional 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 syndromeand profound deafness in the same family.

    • Author Affiliations

       

      MUHAMMAD UMAIR1 2 3 HEIDE SEIDEL2 ISHTIAQ AHMED4 ASMAT ULLAH1 TOBIAS B. HAACK2 3 BADER ALHADDAD2 3 ABID JAN5 AFZAL RAFIQUE1 TIM M. STROM2 3 FAROOQ AHMAD1 THOMAS MEITINGER2 3 WASIM AHMAD1

      1. Faculty of Biological Sciences, Department of Biochemistry, Quaid-i-Azam University, Islamabad 45320, Pakistan
      2. Institute of Human Genetics, Technische Universitat Munchen, 81675 Munich, Germany
      3. Institute of Human Genetics, Helmholtz Zentrum, Munchen, 85764 Neuherberg, Germany
      4. Hayatabad Medical, Peshawar, Khyber Pakhtunkhwa 25000, Pakistan
      5. Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa 26000, Pakistan
    • Dates

       
  • Journal of Genetics | News

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