Gene: [04q25/PITX2] pituitary homeo box 2; bicoid-related homeobox transcription factor (solurshin); Rieger syndrome 1 (MIM:180500); iridogoniodysgenesis, type 2 (MIM:137600); iris hypoplasia with glaucoma 2; [PTX2 RIEG1 ]
EAG | Ptx2 was expressed in both developing and adult pituitary gland, eye, and brain tissues. By analysis of an interspecific backcross panel, Ptx2 was mapped close to epidermal growth factor (GEM:04q25/EGF) which in the human maps to Chr 4q25 and in the mouse to Chr 3 (Gage-1997)." |
HET | [1] It is supposed
this syndrome to be related to epidermal growth factor (GEM:04q25/EGF). Its product seems to be involved in
the morphogenesis of structures which development is disturbed in Rieger
syndrome (Shiang-1987). [2] A possibility also exists that RIEG1 and autosomal dominant iris hypoplasia are allelic forms of the same gene (Heon-1995). Walter-1996 rejected this possibility, they concluded that autosomal dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Alward-1998 concluded that autosomal dominant iris hypoplasia is caused by a defect in the same gene that is defective in many cases of Rieger syndrome. [3] Through FISH analysis of a 460kB sequence-ready map (PAC contig) around Rieger syndrome gene Flomen-1998 demonstrated that the disorder can arise from the haploid, whole-gene deletion of RIEG, but also from a translocation break 90kB upstream from the gene. [4] On another form of Rieger syndrome see GEM:13q14/RIEG2." |
REF | MUT "Alward WL &: Am J
Ophthal, 125, N1, 98-100, 1998 PHE,FOG "Chisholm IA, Chudley AE: Brit J Ophthal, 67, N8, 529-534, 1983 MUT "Flomen RH &: Genomics, 47, N3, 409-413, 1998 LOC,ABR "Fryns JP, van den Berghe H: Genet Couns, 3, 153-154, 1992 LOC "Gage PJ, Camper SA: Hum Mol Genet, 6, 457-464, 1997 LIN,LOC "Heon E &: Hum Mol Genet, 4, N8, 1435-1439, 1995 PHE,FOG "Jorgenson RJ &: Am J Med Genet, 2, N3, 307-318, 1978 HET "Legius E &: J Med Genet, 31, 340-341, 1994 LOC,CYG "Ligutic I &: Clin Genet, 20, 323-327, 1981 LOC,ABR "Makita Y &: Am J Med Genet, 57, N1, 19-21, 1995 LOC,CYG "Motegi &: AJHG, 41, A76, 1987 LIN,LOC "Murray JC &: Nature Genet, 2, 46-49, 1992 HIS "Schinzel A: Am J Med Genet, 27, N4, 749-752, 1987 CLO,EXP,LOC,MOU "Semina EV &: Hum Mol Genet, 6, N12, 2109-2116, 1997 CLO,SEQ,GEN,LOC,MUT "Semina EV &: Nature Genet, 14, N4, 392-399, 1996 LOC,CYG "Shiang &: AJHG, 41, A185, 1987 LIN,LOC "Vaux C &: J Med Genet, 29, 256-258, 1992 HET "Walter MA &: Ophthalmology, 103, N11, 1907-1915, 1996 |
SWI | SWISSPROT: Q99697 |
KEY | trc, ont, eye, dent, devd |
CLA | coding, basic |
LOC | 04 q25 |
MIM | MIM: 601542 |
SYN | PTX2 RIEG1 |
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