ZFIN ID: ZDB-PUB-170524-10
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
George, A., Zand, D.J., Hufnagel, R.B., Sharma, R., Sergeev, Y.V., Legare, J.M., Rice, G.M., Scott Schwoerer, J.A., Rius, M., Tetri, L., Gamm, D.M., Bharti, K., Brooks, B.P.
Date: 2016
Source: American journal of human genetics   99: 1388-1394 (Journal)
Registered Authors: Brooks, Brian P.
Keywords: none
MeSH Terms:
  • Albinism/genetics*
  • Alleles*
  • Animals
  • Child, Preschool
  • Coloboma/genetics*
  • Deafness/genetics*
  • Female
  • Homozygote
  • Humans
  • Infant
  • Male
  • Megalencephaly/genetics*
  • Microphthalmia-Associated Transcription Factor/genetics*
  • Microphthalmos/genetics*
  • Osteopetrosis/genetics*
  • Pedigree
  • Syndrome
  • Zebrafish/embryology
  • Zebrafish/genetics
  • Zebrafish Proteins/genetics
PubMed: 27889061 Full text @ Am. J. Hum. Genet.
Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations.