Brachydactyly type E in an Italian family with 6p25 trisomy

Eur J Med Genet. 2017 Mar;60(3):195-199. doi: 10.1016/j.ejmg.2017.01.006. Epub 2017 Jan 19.

Abstract

Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.

Keywords: 6p25; Brachydactyly; Duplication; FOXC1; Type E.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brachydactyly / genetics*
  • Chromosomes, Human, Pair 6 / genetics
  • Female
  • Forkhead Transcription Factors / genetics*
  • Humans
  • Infant
  • Italy
  • Karyotype
  • Metacarpal Bones / abnormalities
  • Metatarsal Bones / abnormalities
  • Middle Aged
  • Trisomy / genetics*

Substances

  • FOXC1 protein, human
  • Forkhead Transcription Factors

Supplementary concepts

  • Brachydactyly, Type E
  • Chromosome 6, trisomy 6p