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

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Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. / Kjaer, Klaus W; Hansen, Lars; Eiberg, Hans; Christensen, Knud Stenild; Opitz, John M; Tommerup, Niels.

In: American Journal of Medical Genetics. Part A, Vol. 137, No. 2, 2005, p. 148-52.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Kjaer, KW, Hansen, L, Eiberg, H, Christensen, KS, Opitz, JM & Tommerup, N 2005, 'Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG', American Journal of Medical Genetics. Part A, vol. 137, no. 2, pp. 148-52. https://doi.org/10.1002/ajmg.a.30820

APA

Kjaer, K. W., Hansen, L., Eiberg, H., Christensen, K. S., Opitz, J. M., & Tommerup, N. (2005). Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. American Journal of Medical Genetics. Part A, 137(2), 148-52. https://doi.org/10.1002/ajmg.a.30820

Vancouver

Kjaer KW, Hansen L, Eiberg H, Christensen KS, Opitz JM, Tommerup N. Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. American Journal of Medical Genetics. Part A. 2005;137(2):148-52. https://doi.org/10.1002/ajmg.a.30820

Author

Kjaer, Klaus W ; Hansen, Lars ; Eiberg, Hans ; Christensen, Knud Stenild ; Opitz, John M ; Tommerup, Niels. / Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. In: American Journal of Medical Genetics. Part A. 2005 ; Vol. 137, No. 2. pp. 148-52.

Bibtex

@article{df79372003e911deb05e000ea68e967b,
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.",
number = "2",

}

RIS

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

VL - 137

SP - 148

EP - 152

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 2

ER -

ID: 10795724