Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet 2016 Dec 01;99(6):1388-1394
Date
11/28/2016Pubmed ID
27889061Pubmed Central ID
PMC5142105DOI
10.1016/j.ajhg.2016.11.004Scopus ID
2-s2.0-85003956518 (requires institutional sign-in at Scopus site) 71 CitationsAbstract
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.
Author List
George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BPAuthor
Jessica Scott Schwoerer MD Associate Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AlbinismAlleles
Animals
Child, Preschool
Coloboma
Deafness
Female
Homozygote
Humans
Infant
Male
Megalencephaly
Microphthalmia-Associated Transcription Factor
Microphthalmos
Osteopetrosis
Pedigree
Syndrome
Zebrafish
Zebrafish Proteins
