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

Klaus W Kjaer; Lars Hansen; Hans Eiberg; Knud Stenild Christensen; John M Opitz; Niels Tommerup

doi:10.1002/ajmg.a.30820

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

Klaus W Kjaer, Lars Hansen, Hans Eiberg, Knud Stenild Christensen, John M Opitz, Niels Tommerup

Department of Cellular and Molecular Medicine

6 Citations (Scopus)

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.

Original language	English
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	https://doi.org/10.1002/ajmg.a.30820
Publication status	Published - 2005

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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.",

author = "Kjaer, {Klaus W} and Lars Hansen and Hans Eiberg and Christensen, {Knud Stenild} and Opitz, {John M} and Niels Tommerup",

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",

year = "2005",

doi = "10.1002/ajmg.a.30820",

language = "English",

volume = "137",

pages = "148--52",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "JohnWiley & Sons, Inc.",

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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 -

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

Abstract

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