Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG.
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.
Kjaer
Klaus W
KW
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
Hansen
Lars
L
Eiberg
Hans
H
Christensen
Knud Stenild
KS
Opitz
John M
JM
Tommerup
Niels
N
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
D018168:Receptors, Retinoic Acid