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

• Autorzy: Jamsheer A , Wisniewska M , Szpak A , Bugaj G , Krawczynski M R , Budny B , Wawrocka A , Latos-Bielenska A
• Języki publikacji: EN

Abstrakty

EN

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.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2009
• Tom: 50
• Numer: 3
• Opis fizyczny: p.297-299,fig.,ref.

Twórcy

autor

Jamsheer A

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pavilion 15, 60-352 Poznan, Poland
• Centre for Medical Genetics in Poznan, Poland

autor

Wisniewska M

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pavilion 15, 60-352 Poznan, Poland
• Centre for Medical Genetics in Poznan, Poland

autor

Szpak A

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pavilion 15, 60-352 Poznan, Poland

autor

Bugaj G

• Department of Infectious Diseases and Child Neurology, Poznań University of Medical Sciences

autor

Krawczynski M R

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pavilion 15, 60-352 Poznan, Poland
• Centre for Medical Genetics in Poznan, Poland

autor

Budny B

• Centre for Medical Genetics in Poznan, Poland

autor

Wawrocka A

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pavilion 15, 60-352 Poznan, Poland

autor

Latos-Bielenska A

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pavilion 15, 60-352 Poznan, Poland
• Centre for Medical Genetics in Poznan, Poland

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