Gene: 7-dehydrocholesterol reductase; DHCR7


Gene Symbol: DHCR7
OMIM: 602858
Chromosome location: 11q13.4

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Smith-Lemli-Opitz syndrome || c.278C>T

Phenotype:    Smith-Lemli-Opitz syndrome
Dna Change:    c.278C>T
Protein Change:    p.Thr93Met
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 4
Transcript:    NM_001360.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
GreeceNANANANANowaczyk MJ et al., 2004Nowaczyk MJ, Martin-Garcia D, Aquino-Perna A, Rodriguez-Vazquez M, McCaughey D, Eng B, Nakamura LM, Waye JS, . Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.. Am. J. Med. Genet. A. 2004; 125(2):173-6
ItalyNANA45%NAWitsch-Baumgartner M et al., 2005Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G, . Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.. Hum. Mutat.. 2005; 25(4):412
ItalyNANANANANowaczyk MJ et al., 2004Nowaczyk MJ, Martin-Garcia D, Aquino-Perna A, Rodriguez-Vazquez M, McCaughey D, Eng B, Nakamura LM, Waye JS, . Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.. Am. J. Med. Genet. A. 2004; 125(2):173-6
SpainNANA23%NAWitsch-Baumgartner M et al., 2005Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G, . Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.. Hum. Mutat.. 2005; 25(4):412
SpainNANANANANowaczyk MJ et al., 2004Nowaczyk MJ, Martin-Garcia D, Aquino-Perna A, Rodriguez-Vazquez M, McCaughey D, Eng B, Nakamura LM, Waye JS, . Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.. Am. J. Med. Genet. A. 2004; 125(2):173-6

References

Nowaczyk MJ, Martin-Garcia D, Aquino-Perna A, Rodriguez-Vazquez M, McCaughey D, Eng B, Nakamura LM, Waye JS, Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.Am. J. Med. Genet. A. 2004; 125(2):173-6

Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G, Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.Hum. Mutat.. 2005; 25(4):412