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

Department of Cellular and Molecular Medicine

22 Citations (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.

Original language	English
Journal	American Journal of Medical Genetics. Part C: Seminars in Medical Genetics
Volume	110
Issue number	2
Pages (from-to)	116-121
Number of pages	6
ISSN	1552-4868
DOIs	https://doi.org/10.1002/ajmg.10397
Publication status	Published - 2002

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

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10.1002/ajmg.10397

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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",

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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

Keywords

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