PUBLICATION
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
- Authors
- 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.
- ID
- ZDB-PUB-170524-10
- 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.
Citation
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. (2016) Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. American journal of human genetics. 99:1388-1394.
Abstract
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping