Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | American Journal of Medical Genetics. Part A |
Volume | 137 |
Issue number | 2 |
Pages (from-to) | 148-52 |
Number of pages | 4 |
ISSN | 1552-4825 |
DOIs | |
Publication status | Published - 2005 |
Bibliographical note
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
ID: 10795724