Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG

TY - JOUR

T1 - Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG

AU - Kjaer, Klaus W

AU - Hansen, Lars

AU - Eiberg, Hans

AU - Christensen, Knud Stenild

AU - Opitz, John M

AU - Tommerup, Niels

N1 - Keywords: Abnormalities, Multiple; Adult; Child; Foot Deformities, Congenital; Genetic Predisposition to Disease; Hand Deformities, Congenital; Humans; Inheritance Patterns; Male; Nose; Receptors, Retinoic Acid; Sex Factors; Syndrome

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

U2 - 10.1002/ajmg.a.30820

DO - 10.1002/ajmg.a.30820

M3 - Journal article

C2 - 16059937

SN - 1552-4825

VL - 137

SP - 148

EP - 152

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 2

ER -