Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
Julia Zguricasa, Henk Heusb, Estela Morales-Peraltac, Guido Breedveldb, Bertus Kuytd, Ethem F Mumcue, Wendela Bakkera, Nurten Akarsuf, Simon P J Kayg, Steven E R Hoviusa, Luis Heredero-Bautec, Ben A Oostrab, Peter Heutinkb
a Department of
Plastic and Reconstructive Surgery, Erasmus University, Rotterdam, The
Netherlands, b Department of Clinical Genetics, Erasmus
University, PO Box 1738, 3000 DR Rotterdam, The Netherlands, c Department of Clinical Genetics, National Center
of Medical Genetics, Havana, Cuba, d Department
of Anthropogenetics, Vrije Universiteit, Amsterdam, The Netherlands, e Social Security Hospital,
Orthopaedic Clinic, Diskapi, Ankara, Turkey, f DNA/Cell Bank and Gene Research Laboratory,
Hacettepe University, Child Health Institute, Sihhiye, Ankara, Turkey, g Department of Plastic and
Reconstructive Surgery, St James's Hospital, Leeds, UK
Correspondence to: Dr Heutink.
Received 1 April 1998;
Revised version accepted for publication 23 June 1998
Polydactyly is the most frequently observed congenital hand
malformation with a prevalence between 5 and 19 per 10 000 live births. It can occur as an isolated disorder, in association with other
hand/foot malformations, or as a part of a syndrome, and is usually
inherited as an autosomal dominant trait. According to its anatomical
location, polydactyly can be generally subdivided into pre- and
postaxial forms. Recently, a gene responsible for preaxial polydactyly
types II and III, as well as complex polysyndactyly, has been localised
to chromosome 7q36.
In order to facilitate the search for the underlying genetic defect, we
ascertained 12 additional families of different ethnic origin affected
with preaxial polydactyly. Eleven of the kindreds investigated could be
linked to chromosome 7q36, enabling us to refine the critical region
for the preaxial polydactyly gene to a region of 1.9 cM. Our findings
also indicate that radial and tibial dysplasia/aplasia can be
associated with preaxial polydactyly on chromosome 7q36.
Combining our results with other studies suggests that all
non-syndromic preaxial polydactylies associated with triphalangism of
the thumb are caused by a single genetic locus, but that there is
genetic heterogeneity for preaxial polydactyly associated with duplications of biphalangeal thumbs. Comparison of the phenotypic and
genetic findings of different forms of preaxial polydactyly is an
important step in analysing and understanding the aetiology and
pathogenesis of these limb malformations.
Keywords: preaxial polydactyly; chromosome 7q36; localisation
© 1999 by J Med Genet
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