OMIM: 270400Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | DHCR7 |
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| Dna Change: | c.278C>T |
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| Protein Change: | p.Thr93Met |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 4 |
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| Transcript: | NM_001360.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Greece | NA | NA | NA | NA | Nowaczyk 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 |
| Italy | NA | NA | 45% | NA | Witsch-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 |
| Italy | NA | NA | NA | NA | Nowaczyk 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 |
| Spain | NA | NA | 23% | NA | Witsch-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 |
| Spain | NA | NA | NA | NA | Nowaczyk 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