1. TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMES.
- Author
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Candan S, Yesil G, Sen Dalkiran E, and Eser B
- Subjects
- Acrocephalosyndactylia diagnosis, Adolescent, Anus, Imperforate diagnosis, Anus, Imperforate genetics, Biological Variation, Population, Child, Genetic Carrier Screening, Genetic Counseling, Hamartoma diagnosis, Hamartoma genetics, Humans, Magnetic Resonance Imaging, Male, Pallister-Hall Syndrome diagnosis, Pituitary Diseases diagnosis, Pituitary Diseases genetics, Sequence Deletion genetics, Acrocephalosyndactylia genetics, DNA Mutational Analysis, Pallister-Hall Syndrome genetics, Zinc Finger Protein Gli3 genetics
- Abstract
Polydactyly is among comnion extremity abnormalities. Mutations of GLI3 gene have been reported commonly in Greig Cephalopolysyndactyly Syndrome (GCPS) and Pallister-Hall Syndrome (PHS). We have determined two different mutations of GLI3 gene in two different cases, one of which is with GCPS and the other one is with PHS. A deletion mutation was detected in the proband with GCPS and his mother. Otherwise, we found that, unlike the previously reported, the mutation c.2437C>T, p.Q813X which was detected in the GLI3 gene caused typical PHS. We are in thought of that our cases will contribute to understanding of phenotypic variability leading to GLI3 mutations.
- Published
- 2016