HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

Klaus Wilbrandt Kjær; Jess Hedeboe; Merete Bugge; Claus Hansen; Karen Friis Henriksen; Maria Baeksted Vestergaard; Niels Tommerup; John M Opitz

doi:10.1002/ajmg.10397

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

Klaus Wilbrandt Kjær, Jess Hedeboe, Merete Bugge, Claus Hansen, Karen Friis Henriksen, Maria Baeksted Vestergaard, Niels Tommerup, John M Opitz

Institut for Cellulær og Molekylær Medicin

22 Citationer (Scopus)

Abstract

In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD)--the Vordingborgtyp of axis duplication and dysostosis. Expansion of a polyalanine tract in the HOXD13 gene is known to cause synpolydactyly. We have rediscovered part of the family described by Thomsen, and detected a 9 triplet polyalanine expansion within HOXD13segregating with the disorder. The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status.

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
Vol/bind	110
Udgave nummer	2
Sider (fra-til)	116-121
Antal sider	6
ISSN	1552-4868
DOI	https://doi.org/10.1002/ajmg.10397
Status	Udgivet - 2002

Adgang til dokumentet

10.1002/ajmg.10397

Citationsformater

@article{e67c599074c511dbbee902004c4f4f50,

title = "HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg",

abstract = "In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD)--the Vordingborgtyp of axis duplication and dysostosis. Expansion of a polyalanine tract in the HOXD13 gene is known to cause synpolydactyly. We have rediscovered part of the family described by Thomsen, and detected a 9 triplet polyalanine expansion within HOXD13segregating with the disorder. The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status.",

keywords = "Alanine, Base Sequence, DNA, DNA Mutational Analysis, Family Health, Female, Genotype, Homeodomain Proteins, Humans, Male, Molecular Sequence Data, Pedigree, Peptides, Polydactyly, Polymorphism, Genetic, Syndactyly, Transcription Factors, Trinucleotide Repeat Expansion",

author = "Kj{\ae}r, {Klaus Wilbrandt} and Jess Hedeboe and Merete Bugge and Claus Hansen and Henriksen, {Karen Friis} and Vestergaard, {Maria Baeksted} and Niels Tommerup and Opitz, {John M}",

year = "2002",

doi = "10.1002/ajmg.10397",

language = "English",

volume = "110",

pages = "116--121",

journal = "American Journal of Medical Genetics. Part C: Seminars in Medical Genetics",

issn = "1552-4868",

publisher = "JohnWiley & Sons, Inc.",

number = "2",

}

TY - JOUR

T1 - HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

AU - Kjær, Klaus Wilbrandt

AU - Hedeboe, Jess

AU - Bugge, Merete

AU - Hansen, Claus

AU - Henriksen, Karen Friis

AU - Vestergaard, Maria Baeksted

AU - Tommerup, Niels

AU - Opitz, John M

PY - 2002

Y1 - 2002

N2 - In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD)--the Vordingborgtyp of axis duplication and dysostosis. Expansion of a polyalanine tract in the HOXD13 gene is known to cause synpolydactyly. We have rediscovered part of the family described by Thomsen, and detected a 9 triplet polyalanine expansion within HOXD13segregating with the disorder. The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status.

AB - In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD)--the Vordingborgtyp of axis duplication and dysostosis. Expansion of a polyalanine tract in the HOXD13 gene is known to cause synpolydactyly. We have rediscovered part of the family described by Thomsen, and detected a 9 triplet polyalanine expansion within HOXD13segregating with the disorder. The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status.

KW - Alanine

KW - Base Sequence

KW - DNA

KW - DNA Mutational Analysis

KW - Family Health

KW - Female

KW - Genotype

KW - Homeodomain Proteins

KW - Humans

KW - Male

KW - Molecular Sequence Data

KW - Pedigree

KW - Peptides

KW - Polydactyly

KW - Polymorphism, Genetic

KW - Syndactyly

KW - Transcription Factors

KW - Trinucleotide Repeat Expansion

U2 - 10.1002/ajmg.10397

DO - 10.1002/ajmg.10397

M3 - Journal article

C2 - 12116248

SN - 1552-4868

VL - 110

SP - 116

EP - 121

JO - American Journal of Medical Genetics. Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics. Part C: Seminars in Medical Genetics

IS - 2

ER -

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater