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Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly
  1. R Richardson1,
  2. D Donnai2,
  3. F Meire3,
  4. M J Dixon1
  1. 1School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, M13 9PT, UK
  2. 2Academic Unit of Medical Genetics and Regional Genetic Service, St Mary’s Hospital, Manchester, M13 0JH, UK
  3. 3Department of Paediatric Ophthalmology, University of Gent, De Pintelaan 185, B-9000 Ghent, Belgium
  1. 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;

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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 Less common features include thin, sparse hair and conductive deafness. Spastic paraparesis or lower limb weakness in association with ODD has been reported in a number of sporadic and familial cases.2,6,9–11 In two of these reports, magnetic resonance imaging demonstrated an underlying leukodystrophy and it has, therefore, been proposed that the definition of ODD be widened to include these features.10,11 Type III syndactyly has also been reported to occur as an isolated entity in several autosomal dominant pedigrees and it is uncertain whether this anomaly and ODD are separate genetic entities or part of the same disease spectrum.12–15 However, a family has been reported who, while not exhibiting the usual ocular or dental anomalies associated with ODD, did have a facial appearance that appeared to bridge the gap between the two conditions. …

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  • This work was supported by grants from the Wellcome Trust (058423, 069243).