Gene: [03p1/MITF] microphthalmia-associated transcription factor; Waardenburg syndrome, type 2A (WS2A; MIM:193510); [WS2A ]
|
COM |
WS2A appears to be due to mutations in splice sites of the MITF gene (Tassbehji-1994, Tassbehji-1995)." |
|
PAT |
[1] The main symptoms of WS: sensorineural hearing loss, heterochromia
irides, white forelock and early graying.
[2] Unlike type I WS, WS2 shows no dystopia canthorum or facial dysmorphism and does not show linkage to 2q35 or mutation in the PAX3 gene (GEM:02q36/PAX3)." |
|
REL |
GEM:01p/WS2B. |
|
REF |
LIN,MUT "Hughes AE &: Nature Genet, 7, 509-512, 1994 PAT "Liu X-Z &: Am J Med Genet, 55, 95-100, 1995 PAT "Reynolds JE &: Am J Med Genet, 57, 540-547, 1995 EXP "Tachibana M &: Nature Genet, 14, 50-54, 1996 LOC,SEQ,EVO "Tachibana M &: Hum Mol Genet, 3, 553-557, 1994 MUT,PAT "Tassabehji M &: Hum Mol Genet, 4, 2131-2137, 1995 MUT,PAT "Tassabehji M &: Nature Genet, 8, 251-255, 1994 |
|
KEY |
eye, trc, neu |
|
CLA |
coding, basic |
|
LOC |
03 p14.1-12.3 |
|
MIM |
MIM: 156845 |
|
SYN |
WS2A |
