Oculo-dento-digital dysplasia: Lack of genotype–phenotype correlation for GJA1 mutations and usefulness of neuro-imaging

M.J. Alao, D. Bonneau, M. Holder-Espinasse, C. Goizet, S. Manouvrier-Hanu, A. Mezel, F. Petit, D. Subtil, C. Magdelaine, D. Lacombe
European Journal of Medical Genetics. 2010-01-01; 53(1): 19-22
DOI: 10.1016/J.EJMG.2009.08.007

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1. Eur J Med Genet. 2010 Jan-Feb;53(1):19-22. doi: 10.1016/j.ejmg.2009.08.007. Epub
2009 Oct 4.

Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1
mutations and usefulness of neuro-imaging.

Alao MJ(1), Bonneau D, Holder-Espinasse M, Goizet C, Manouvrier-Hanu S, Mezel A,
Petit F, Subtil D, Magdelaine C, Lacombe D.

Author information:
(1)Université Victor Segalen Bordeaux 2, France.

Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with
complete penetrance and high intra- and interfamilial phenotypic variability. The
key features in this syndrome are microphthalmia, enamel hypoplasia and
syndactyly of the 4th-5th fingers. ODDD is caused by mutations in the connexin 43
gene (GJA1). We report here four patients from three families with GJA1
mutations, one of them diagnosed prenatally. The three mutations (c.52T >
C/p.Ser18Pro, c.689_690delTA/p.Tyr230CysfsX6, c.442C > G/p.Arg148Gly) have been
reported once before. Two patients had white matter hypersignal anomalies,
associated in one case with mental retardation, but asymptomatic in the other
one, an observation that leads us to discuss systematic neuroradiological imaging
for ODDD. One case has optic atrophy, another has hypospadias. The patient
carrying a truncating mutation of Cx43 did not have palmoplantar keratoderma, in
contradiction with the previously suggested genotype-phenotype correlation
between truncating mutation and skin involvement.

Copyright (c) 2009 Elsevier Masson SAS. All rights reserved.

DOI: 10.1016/j.ejmg.2009.08.007
PMID: 19808103 [Indexed for MEDLINE]

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