Gene: [02q36/PAX3] paired box homeotic gene 3; Waardenburg syndrome, type 1; Waardenburg syndrome, type 3 (with upper limb anomalies; Klein-Waardenburg syndrome; MIM:148820); rhabdomyosarcoma, type 2 (alveolar; MIM:268220); craniofacial-deafness-hand syndrome (MIM:122880); [WS1 HUP2]
FAG | PAX3 fuses to the forkhead (Drosophila) homolog 1 (GEM:13q141/FKHR) in alveolar rhabdomyosarcoma with t(2;13)(q36;q14) chromosomal translocation." |
HET | The type 2 of Waardenburg syndrome (without canthus dystopia) was described (Hageman-1977; Meire-1987). Waardenburg syndrome 2A appears to be due to mutation in microphthalmia-associated transcription factor (GEM:03p1/MITF). On Waardenburg syndrome type 2B see GEM:01p/WS2B." |
HIS | Data on the linkage of
Waardenburg syndrome with Chr 9 markers (ABO: Simpson-1974, Arias-1978;
ABO,AK1,ACO1: Cook-1978) were disproved in later studies. The report of
Read-1989 disproves the linkage of WS1 with ABO blood group in Chr 9, as
well as the presumed linkage with markers of 12q21 segment.
Ishikiriyama-1989a,1989b described an infant with de novo inversion in
chromosome 2 long arm (2)(q35;q37.3) and symptoms of Waardenburg syndrome. Foy-1990 demonstrated the linkage of WS1 with the locus of placental alkaline phosphatase (GEM:02q371/ALPPR)." |
REF | HIS,LIN,PAT "Arias,
Mota: CCG, 22, (HGM4), 291-294, 1978a HIS,PHE "Arias, Mota: J Genet Hum, 26, 103-131, 1978b MUT "Asher JH &: Hum Mut, 7, 30-35, 1996 PAT,MUT "Baldwin CT &: Nature, 355, 637-638, 1992 REV,FUN,EXP,FAG "Chalepakis &: J Cell Sci, 16, (Suppl), 61-67, 1992 HIS,LIN,PAT "Cook &: Ann Hum Genet, 41, 365-377, 1978 HIS,PHE "Delleman, Hageman: J Pediatr Ophthalmol, 15, 341-345, 1978 LOC,LIN,HUM,PAT,MOD,MOU "Foy C &: AJHG, 46, 1017-1023, 1990 HET "Hageman, Delleman: AJHG, 29, 468-485, 1977 MUT,PAT "Hoth CF &: AJHG, 52, N3, 455-462, 1993 LOC,LIN,PAT,CYG "Ishikiriyama S &: CCG, 51, (HGM10), 1018, 1989a LOC,LIN,PAT,CYG "Ishikiriyama S &: Am J Med Genet, 33, 505-507, 1989b PAT,MOD,MOU "Jacobs-Cohen &: J Comp Neurol, 255, 425-438, 1987 GEN,SEQ,MUT,PAT "Macina RA &: Genomics, 26, 1-8, 1995 HET "Meire &: Am J Med Genet, 27, 683-686, 1987 HIS,PHE "Opitz JM: Am J Med Genet, 7, 35-39, 1980 HIS,PHE "Preus &: Am J Med Genet, 15, 383-388, 1983 HIS,LIN,PAT "Read: CCG, 51, (HGM10), 1064, 1989 HIS,LIN,PAT "Simpson &: Humangenetik, 23, 45-50, 1974 FAG "Stapleton P &: Nature Genet, 3, N4 (Apr), 292-298, 1993 MUT,PAT "Tassabehji M &: Hum Mol Genet, 4, 2131-2137, 1995 PAT,MUT,MOD "Tassabehji M &: Hum Mol Genet, 3, 1069-1074, 1994 PAT,MUT "Tassabehji M &: Nature, 355, 635-636, 1992 PAT,MUT "Tsukamoto K &: Hum Mol Genet, 1, 315-317, 1992 ABR,PAT "Whang-Peng J &: Genes Chromosom Cancer, 5, 299-310, 1992 MUT,PAT "Zlotogora J &: AJHG, 56, 1173-1178, 1995 |
SWI | SWISSPROT: P23760 |
KEY | neu, eye |
CLA | coding, basic |
LOC | 02 q36 |
MIM | MIM: 193500 |
SYN | WS1 HUP2 |
