Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

Smrithi Salian; Anju Shukla; Gen Nishimura; Katta M Girisha

doi:10.1055/s-0037-1599201

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

J Pediatr Genet. 2017 Sep;6(3):177-180. doi: 10.1055/s-0037-1599201. Epub 2017 Mar 7.

Authors

Smrithi Salian¹, Anju Shukla¹, Gen Nishimura², Katta M Girisha¹

Affiliations

¹ Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
² Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

Abstract

Brachydactyly type A1 (BDA1) is characterized by short middle phalanges. We report the case of a child with a severe form of BDA1 with complete absence of the middle phalanges of all extremities. He had c.298G > A (p.D100N) mutation in IHH gene.

Keywords: GDF5; IHH; brachydactyly type A.

Publication types

Case Reports