Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb

Muhammad Umair, Muhammad Bilal, Raja H. Ali, Bader Alhaddad, Farooq Ahmad, Abdullah, Tobias B. Haack, Majid Alfadhel, Muhammad Ansar, Thomas Meitinger, Wasim Ahmad

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Whole-exome sequencing (WES) revealed a nonsense mutation (c.84C > A, p.Tyr28*) in the STKLD1, located on chromosome 9q34.2, in affected individuals of both the families. Our findings report the first direct involvement of the STKLD1 in the digit development and highlight the importance of inclusion of this gene for screening individuals presenting non-syndromic recessive PPD.

Original languageEnglish
Pages (from-to)134-139
Number of pages6
JournalClinical Genetics
Volume96
Issue number2
DOIs
StatePublished - Aug 2019

Keywords

  • STKLD1
  • limb anomaly
  • nonsense variant
  • pre-axial polydactyly
  • serine-threonine kinase

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