Gene: [07p13/GLI3] GLI-Kruppel family member GLI3; chromatin-associated GLI-phosphoprotein 3; zinc finger oncoprotein GLI3; Pallister-Hall syndrome (MIM:146510); Greig craniopolysyndactyly syndrome (MIM:175700); postaxial polydactyly, type A1 (MIM:174200); [PHS GCPS ]
MUT | [1] Vortkamp-1991 demonstrated that 2 of 3 translocations found to be associated with GCPS interrupt the GLI3 gene. The breakpoints were within the first third of the coding sequence. In the third translocation, Chr 7 was broken at about 10 kb downstream of the 3-prime end of GLI3." |
PAT | [1] Pallister-Hall syndrome is inherited as autosomal dominant
trait and has been mapped to Chr 7p13 by Kang-1996. Later Kang-1997
revealed GLI3 frameshift mutations that cause Pallister-Hall syndrome. Main
features: hypothalamic hamartoblastoma, hypopituitarism, imperforate anus,
and postaxial polydactyly. [2] Postaxial polydactyly is about 10 times more frequent in blacks than in Caucasians (Frazier-1960). From the study of various pedigrees of postaxial polydactyly, it is suggested that 2 phenotypically and possibly genetically different varieties exist. In type A, the extra digit is rather well formed and articulates with the fifth or an extra metacarpal. This type is inherited as a dominant trait with marked penetrance. In postaxial polydactyly type B (pedunculated postminimi), the extra digit is not well formed and is frequently in the form of a skin tag. The genetics of this type is more complicated. Ventruto-1980 studied an Italian family in which some individuals had both types A and B on different limbs. Consequently they questioned the proposed genetic distinctness of the 2 types." |
CAG | Another locus for postaxial polydactyly type A (A2) is mapped to Chr 13q: GEM:13q/PAPA2." |
FAG | About the multigene family GLI-Kruppel, see GEM:19^/HKR1. This group of GLI oncophosphoproteins belongs to the superfamily of DNA-binding proteins (FAM:CHRBP/00.0), together with HKR and ZNF proteins." |
REF | PAT,LOC,LIN "Brueton L &: Am J Med Genet, 31, 799-804,
1988 PAT,FOG "Frazier TM: Am J Obstet Gynecol, 80, 184-185, 1960 PAT,PHE,REV "Gollop TR, Fontes LR: Am J Med Genet, 22, N1, 59-68, 1985 MUT "Kang S &: Nature Genet, 15, N3, 266-268, 1997 LOC "Kang S &: AJHG, 59, A81, 1996 PAT,FOG "Kucheria K &: Clin Genet, 20, 36-39, 1981 PAT,FOG "Kuller JA &: Am J Med Genet, 43, 647-650, 1992 PAT,LOC "Pelz L &: Helv Paediat Acta, 41, 381, 1986 PAT,LOC,LIN "Radhakrishna U &: AJHG, 60, 597-604, 1997a MUT "Radhakrishna U &: Nature Genet, 17, N3, 269-271, 1997b CLO,SEQ,LOC,FAG,PRO "Ruppert JM &: Mol Cell Biol, 8, 3104-3113, 1988 PAT,LOC "Tommerup N, Nielsen: Am J Med Genet, 16, 313-321, 1983 PAT,CAG,FOG "Ventruto V &: Clin Genet, 18, 342-347, 1980 PAT,MUT "Vortkamp A &: Nature, 352, 539-540, 1991 MUT "Wild A &: Hum Mol Genet, 6, N11, 1979-1984, 1997 |
SWI | SWISSPROT: P10071 |
KEY | ont, onc, devd, bone |
CLA | coding, basic |
LOC | 07 p13 |
MIM | MIM: 165240 |
SYN | PHS GCPS |
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