Gene: [07q36/SHH] sonic hedgehog (Drosophila) homolog; holoprosencephaly 3 (MIM:142945); [HLP3 HPE3 ]

MUT

Belloni et al. (Belloni-1996) identified SHH as a candidate gene for the autosomal dominant holoprosencephaly type 3 (HPE3) by detailed characterization of HPE3 patient chromosome rearrangements and contigs of the HPE3 region. The authors proposed that the chromosomal rearrangements remove distal cis-acting regulatory elements or exert long-term position effects causing aberrant expression of the gene. Roessler-1996 defined the intron-exon boundaries of SHH by direct sequencing and then designed primers for exon amplification and SSCP analysis in 30 families with HPE3. The authors then identified mutations in SHH which caused HPE3 in these families."

FAG

See GEM:02q3/IHH[:FAG].

REF

MUT,ABR,TRC,MCH "Belloni E &: Nature Genet, 14, N3, 353-356, 1996
PAT,LOC "Hatziioannou AG &: Am J Med Genet, 40, 201-205, 1991
PAT,LOC "Kleczkowska A &: Ann Genet, 33, 111-112, 1990
CLO,SEQ,EXP,LOC "Marigo V &: Genomics, 28, N1, 44-51, 1995
FUN,REV "Olson EN, Srivastava D: Science, 272, N5262, 671-676, 1996
FUN "Riddle RD &: Cell, 75, N7, 1401-1416, 1993
PAT,MUT,MCH,EXP,MOD "Roessler E &: Nature Genet, 14, N3, 357-360, 1996

KEY

devd, bone

CLA

coding, basic

LOC

07 q36

MIM

MIM: 600725

SYN

HLP3 HPE3

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