title: Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
abstract: BACKGROUND
  Split hand and foot malformation (SHFM) refers to a genetically heterogeneous developmental disorder of the hands and feet that presents as median ray deficiency of varying severity. 7q21.3 (SHFM1) is one of six loci described to date, and although DLX5 and DLX6 are compelling candidates in that locus, no intragenic mutations have been described in either of these genes.
  
  
  METHODS
  The authors combined autozygome analysis and exome sequencing to study a consanguineous family with a highly unusual SHFM phenotype, where there is associated dorsalisation of the hands.
  
  
  RESULTS
  A novel missense mutation in a highly conserved residue of the homeobox domain of DLX5 was identified. Unlike previously reported position effect mutations in SHFM1, this first documented intragenic DLX5 mutation is also accompanied by abnormal dorsal-ventral patterning.
  
  
  CONCLUSIONS
  This study identified the first intragenic DLX5 mutation in SHFM and raises interesting possibilities about a dual role for DLX5 in limb development.
authors: Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, Riyad 11211, Saudi Arabia.
authors: Hanan E
authors: HE
authors: Shamseldin
authors: Maha A
authors: MA
authors: Faden
authors: Walid
authors: W
authors: Alashram
authors: Fowzan S
authors: FS
authors: Alkuraya
mesh_terms: D001483:Base Sequence; D002648:Child; D003241:Consanguinity; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D056726:Genetic Association Studies; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C100596:DLX5 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors