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Male‐to‐male transmission in Laurin–Sandrow syndrome and exclusion of RARB and RARG
Author(s) -
Kjaer Klaus W.,
Hansen Lars,
Eiberg Hans,
Christensen Knud Stenild,
Opitz John M.,
Tommerup Niels
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30820
Subject(s) - transmission (telecommunications) , biology , computer science , communication , psychology , telecommunications
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. © 2005 Wiley‐Liss, Inc.