title: Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG.
abstract: We report on a father and a son with nasal and limb defects characteristic of Laurin-Sandrow syndrome (LSS) excluding for the first time X-linked inheritance in this rare condition. Based on a search for genes expressed late during nose formation and early in limb formation we identified retinoic acid receptor B (RARB) and retinoic acid receptor G (RARG) as possible candidate genes and sequenced bidirectionally including all exons and intron-exon bounders. We identified a single nucleotide substitution in intron 2 of RARB, which is conserved in human, chimp, dog, mouse, rat, and chicken. However, it was located 83 bp from exon 2, suggesting it is a rare polymorphism which does not account for the phenotype. No other mutations were found. This suggests that another yet unknown gene is responsible for the condition.
authors.affiliation: Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Panum Institute 24.4, Blegdamsvej 3, 2200 Copenhagen N, Denmark. klaus.kjaer@medgen.ku.dk
authors.forename: Klaus W
authors.initials: KW
authors.lastname: Kjaer
authors.forename: Lars
authors.initials: L
authors.lastname: Hansen
authors.forename: Hans
authors.initials: H
authors.lastname: Eiberg
authors.forename: Knud Stenild
authors.initials: KS
authors.lastname: Christensen
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002648:Child; D005532:Foot Deformities, Congenital / Q000473:pathology*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D009666:Nose / Q000002:abnormalities*; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012737:Sex Factors; D013577:Syndrome
chemical_list: D018168:Receptors, Retinoic Acid