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Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion.

Horsnell K, Ali M, Malik S, Wilson L, Hall C, Debeer P, Crow YJ

Eur J Med Genet. 2006;49( 5):396-401.

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Abstract

Synpolydactyly (SPD) is an autosomal dominant malformation of the distal limbs caused by mutations in the homeobox gene HOXD13 located on chromosome 2q31. We detail the clinical findings in a consanguineous Pakistani family segregating a HOXD13 7-residue polyalanine tract expansion. Three members of this pedigree were heterozygotes with features typical of SPD. Two further members demonstrate a more severe phenotype consistent with homozygosity for the familial mutation. We also report a child from a consanguineous Somali family homozygous for the same molecular lesion. Characteristic changes include a complex central polydactyly in the hands, abnormal modelling of the metacarpals and metatarsals, an increased number of carpal bones with abnormal shapes, hypoplasia or absence of the fifth digital rays in the feet, hypoplasia of the middle phalanges and abnormally long proximal phalanges in hands and feet. These cases illustrate the distinct phenotype associated with homozygosity for a HOXD13 mutation and also highlight the importance of considering homozygosity for a dominant mutation in consanguineous pedigrees.

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Type of resource:
Content type:
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Published date:
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Place of publication:
Netherlands
Volume:
49( 5)
Start page:
396
End page:
401
Pagination:
396-401
Digital Object Identifier:
10.1016/j.ejmg.2006.01.004
Access state:
Active

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Manchester eScholar ID:
uk-ac-man-scw:1d18619
Created:
30th August, 2009, 14:55:54
Last modified:
3rd March, 2010, 18:55:22

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