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Mutational spectrum of Smith–Lemli–Opitz syndrome
Author(s) -
Waterham Hans R.,
Hennekam Raoul C.M.
Publication year - 2012
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31346
Subject(s) - smith–lemli–opitz syndrome , missense mutation , indel , genetics , nonsense , 7 dehydrocholesterol reductase , nonsense mutation , biology , gene , mutation , genotype , reductase , enzyme , single nucleotide polymorphism , biochemistry
Smith–Lemli–Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive malformation syndrome characterized by a large spectrum of morphogenic and congenital anomalies. SLOS is caused by mutations in the DHCR7 gene, which encodes 7‐dehydrocholesterol reductase, the enzyme that catalyzes the final step in cholesterol biosynthesis. We report on 154 currently known mutations in DHCR7 identified in patients affected with SLOS and discuss their coding consequences. These 154 mutations include 130 missense, 8 nonsense, 8 deletions, 2 insertions, 1 indel, and 5 splice site mutations. Using information available from published case reports and from patients identified in our clinical diagnostic laboratory, we analyzed correlations between genotype, clinical presentation and 7‐dehydrocholesterol level. © 2012 Wiley Periodicals, Inc.