Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

Am J Med Genet A. 2009 Jun;149A(6):1277-9. doi: 10.1002/ajmg.a.32844.

Abstract

We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft of lip and palate, and severe mental retardation. The karyotype was normal and the screening for mutations in the genes SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 did not show any change. This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Brazil
  • Child, Preschool
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Eye Proteins / genetics
  • Hand Deformities, Congenital / genetics*
  • Hedgehog Proteins / genetics
  • Holoprosencephaly / genetics*
  • Homeobox Protein SIX3
  • Homeodomain Proteins / genetics
  • Humans
  • Intellectual Disability / genetics
  • Kruppel-Like Transcription Factors / genetics
  • Male
  • Nerve Tissue Proteins / genetics
  • Nuclear Proteins / genetics
  • Oxidoreductases Acting on CH-CH Group Donors / genetics
  • Repressor Proteins / genetics
  • Severity of Illness Index
  • Trans-Activators / genetics
  • Transcription Factors
  • Tumor Suppressor Proteins / genetics
  • Zinc Finger Protein Gli2

Substances

  • Eye Proteins
  • GLI2 protein, human
  • Hedgehog Proteins
  • Homeodomain Proteins
  • Kruppel-Like Transcription Factors
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • SHH protein, human
  • TGIF1 protein, human
  • TP63 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins
  • Zinc Finger Protein Gli2
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase