Evaluation of candidate genes for familial brachydactyly

Joan M. Mastrobattista, Pascal Dollé, Susan H Blanton, Hope Northrup

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Type Al brachydactyly in humans is a recognisable syndrome characterised by shortening of the middle phalanx of all digits with occasional fusion of the middle and terminal phalanges. The purpose of this study was to evaluate candidate genes for type Al brachydactyly in two families with multiple affected members. Several classes of genes have been implicated in the control of distal limb development including homeobox containing genes (MSXI, MSX2), some members of the homeobox gene family, and genes encoding growth factors of the FGF, TGF, and PDGF families. Homeobox (Hox) genes are a family of developmental control genes activated early in embryogenesis that encode positional information alongthe anterior-posterior body axis and specify distinct spatial domains within developing limbs. Growth factor genes can regulate the proliferation and differentiation of various embryonic structures including limb buds and have been shown to influence Hox gene expression. Candidate genes HOXD, MSX1, MSX2, FGF1, and FGF-2 were excluded in one family. The brachydactyly type Al gene or locus was not found in either of the two families studied.

Original languageEnglish
Pages (from-to)851-854
Number of pages4
JournalJournal of Medical Genetics
Volume32
Issue number11
DOIs
StatePublished - Jan 1 1995
Externally publishedYes

Fingerprint

Brachydactyly
candidacy
Homeobox Genes
evaluation
Genes
Intercellular Signaling Peptides and Proteins
Extremities
Developmental Genes
Limb Buds
Fibroblast Growth Factor 1
Fibroblast Growth Factor 2
proliferation
Embryonic Development
Embryonic Structures
Gene Expression

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Health(social science)
  • Genetics
  • Genetics(clinical)

Cite this

Evaluation of candidate genes for familial brachydactyly. / Mastrobattista, Joan M.; Dollé, Pascal; Blanton, Susan H; Northrup, Hope.

In: Journal of Medical Genetics, Vol. 32, No. 11, 01.01.1995, p. 851-854.

Research output: Contribution to journalArticle

Mastrobattista, Joan M. ; Dollé, Pascal ; Blanton, Susan H ; Northrup, Hope. / Evaluation of candidate genes for familial brachydactyly. In: Journal of Medical Genetics. 1995 ; Vol. 32, No. 11. pp. 851-854.
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