LETTER TO JMG

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

R Richardson¹, D Donnai², F Meire³, M J Dixon¹

¹ School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, M13 9PT, UK
² Academic Unit of Medical Genetics and Regional Genetic Service, St Mary’s Hospital, Manchester, M13 0JH, UK
³ Department of Paediatric Ophthalmology, University of Gent, De Pintelaan 185, B-9000 Ghent, Belgium

Correspondence to:
Correspondence to:
Professor M J Dixon
School of Biological Sciences and Department of Dental Medicine and Surgery, 3.239 Stopford Building, University of Manchester, Oxford Road, Manchester, M13 9PT, UK; mike.dixon@man.ac.uk

Revised version received 3 July 2003

Accepted 31 July 2003

Abbreviations: ODD, oculodentodigital syndrome

Keywords: oculodentodigital syndrome; connexin 43; Gja1

The first 150 words of the full text of this article appear below.

Oculodentodigital syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression.¹ In addition, a high rate of de novo mutations is observed.² Facially, affected patients exhibit a long, narrow nose with hypoplastic alae, thin, anteverted nostrils and a prominent nasal bridge, short palpebral fissures, and bilateral microcornea often with anomalies of the iris.^3,4 Secondary glaucoma occurs in a number of patients.⁵ Bilateral complete syndactyly of the fourth and fifth fingers (type III syndactyly) is the characteristic digital malformation. The third finger may occasionally also be involved and associated camptodactyly is a common finding.² In addition, microdontia and generalised hypoplasia of the enamel, which tends to affect both the primary and secondary dentitions, are frequently observed.^2,6 Cleft palate has also been reported in a number of cases.^6–9 . . . [Full text of this article]

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