Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
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SUBMITTER: George A
PROVIDER: S-EPMC5142105 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
George Aman A Zand Dina J DJ Hufnagel Robert B RB Sharma Ruchi R Sergeev Yuri V YV Legare Janet M JM Rice Gregory M GM Scott Schwoerer Jessica A JA Rius Mariana M Tetri Laura L Gamm David M DM Bharti Kapil K Brooks Brian P BP
American journal of human genetics 20161123 6
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 s ...[more]
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