Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis

Eur J Med Genet. 2013 Feb;56(2):88-92. doi: 10.1016/j.ejmg.2012.11.002. Epub 2012 Nov 30.

Abstract

Split-hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterised by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, BHLHA9 has been proposed to be the major candidate gene responsible for this limb malformation. Here we report two new patients affected with ectrodactyly harbouring a 17p13.3 duplication detected by array-CGH. Both duplications contain 3 genes including BHLHA9 and are inherited from an unaffected parent. One of the patients presents a complete radial agenesis, expanding the phenotype of SHFLD3.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 17
  • Comparative Genomic Hybridization
  • Female
  • Gene Duplication*
  • Humans
  • Infant
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / genetics*
  • Male
  • Phenotype*
  • Recombination, Genetic
  • Tibia / abnormalities

Substances

  • BHLHA9 protein, human
  • Basic Helix-Loop-Helix Transcription Factors

Supplementary concepts

  • Split-hand-foot malformation with long bone deficiency