Publication Details

Title :

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


Clinical Genetics

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Umair M1,2,3, Bilal M2, Ali RH2,4, Alhaddad B3, Ahmad F2, Abdullah2, Haack TB3, Alfadhel M1,5, Ansar M2, Meitinger T3, Ahmad W2.


1 Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

2 Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.

3 Institute of Human Genetics, Technische Universitat Munchen, Munchen, Germany.

4 Division of Hematology/Oncology, Boston Children’s Hospital, Boston, Massachusetts.

5 Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children’s Hospital, Riyadh, Saudi Arabia.

Year of Publication:





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.