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A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia

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Jamsheer A., Wisniewska M., Szpak A., Bugaj G., Krawczynski M. R., Budny B., Wawrocka A., Latos-Bielenska A.

Journal of Applied Genetics

2009

vol. 50

issue 3

297-299

Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation c.C31A resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein.

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability

100%

Jamsheer A., Henggeler C., Wierzba J., Loeys B., De_ P. A., Stheneur C., Badziag N., Matuszewska K., Matyas G., Latos-Bielenska A.

Journal of Applied Genetics

2009

vol. 50

issue 4

405-410

We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the group of Marfan-related disorders. The characteristic LDS symptoms observed in the girl included craniofacial dysmorphism (craniosynostosis, cleft palate, hypertelorism), arachnodactyly, camptodactyly, scoliosis, joint laxity, talipes equinovarus, translucent and hyperelastic skin, and umbilical hernia. Mild dilatation of the ascending aorta and tortuous course of the left internal carotid artery were recognized during her second year of life. Molecular genetic testing revealed a heterozygous missense mutation (c.1582C>T, p.R528C) in the transforming growth factor beta receptor II gene (TGFBR2). This mutation has been previously associated with LDS in 5 unrelated cases, and was never reported in patients with other Marfan-related disorders. Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only the hallmark triad of the syndrome ? consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid uvula ? was present in all 6 cases. Interestingly, none of the 5 individuals who underwent psychological evaluation showed developmental delay. The pattern of all other LDS features showed interindividual variability. Our data support the recently reported observation that symptoms of LDS can develop at a very young age, making early diagnosis and management essential for these patients. This is the first report on a Polish infant with typical LDS symptoms caused by a TGFBR2 mutation.

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2 Journal of Applied Genetics

2 2009

2 Jamsheer A.

2 Latos-Bielenska A.

1 Badziag N.

1 Budny B.

1 Bugaj G.

1 De_ P. A.

1 Henggeler C.

1 Krawczynski M. R.

1 Loeys B.

1 Matuszewska K.

1 Matyas G.

1 Stheneur C.

1 Szpak A.

1 Wawrocka A.

1 Wierzba J.

1 Wisniewska M.

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A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability