LETTER TO JMG

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

C M Armour^1,2, M E McCready^2,3, A Baig^2,3, A G W Hunter¹, D E Bulman^2,3,4

¹ Eastern Ontario Regional Genetics Programme, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
² Ottawa Health Research Institute, and the University of Ottawa Centre for Neuromuscular Disease, Ottawa, Ontario, Canada
³ Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, Ontario, Canada
⁴ Department of Medicine, Division of Neurology, University of Ottawa, Ottawa, Ontario, Canada

Correspondence to:
Correspondence to:
Dr D E Bulman, Ottawa Health Research Institute, 501 Smyth Road, Room 4G-101, Ottawa, Ontario, Canada K1H 8L6;
dbulman@ohri.ca

Keywords: brachydactyly type A1; chromosome 5p13.3-p13.2

Abbreviations: PPAR, peroxisome proliferator activated receptor; PPRE, PPAR response elements; BMI, body mass index; HDL, high density lipoprotein; LDL, low density lipoprotein

The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick¹ and Fitch.² Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phalanges. Often the second and fifth digits, as well as the first proximal phalanx, are the most severely affected. In addition, all of the small tubular bones tend to be reduced in size and the metacarpals may be shortened, particularly the fifth metacarpal. Radial/ulnar clinodactyly, as well as malformed or absent epiphyses, have also been reported.^1,2 Complex syndromes have been described in which BDA1 is one of a number of manifestations.³

Recently, genetic linkage for a BDA1 locus has been reported to map to 2q35-q36 in two . . . [Full text of this article]

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