Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly
We report a male patient with multiple congenital anomalies, including coloboma, Fallot tetralogy, bilateral choanal atresia, dysmorphic features (low set malformed ears, fronto-maxillary facial angle deviation, hypertelorism, retrognathism), micropenis, preaxial polydactyly and ureter stenosis. The...
Elmentve itt :
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| Dokumentumtípus: | Cikk |
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2016
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| Sorozat: | CLINICAL DYSMORPHOLOGY
25 No. 3 |
| doi: | 10.1097/MCD.0000000000000120 |
| mtmt: | 3029126 |
| Online Access: | http://publicatio.bibl.u-szeged.hu/9802 |
| Tartalmi kivonat: | We report a male patient with multiple congenital anomalies, including coloboma, Fallot tetralogy, bilateral choanal atresia, dysmorphic features (low set malformed ears, fronto-maxillary facial angle deviation, hypertelorism, retrognathism), micropenis, preaxial polydactyly and ureter stenosis. The major abnormalities had been diagnosed in prenatal period by ultrasound examination and the clinical diagnosis of CHARGE syndrome was established in postnatal periode by sequence analysis of the CHD7 coding region pointing to a novel heterozygous 4-basepair deletion in exon 3 that leads to an early stop codon and truncated CHD7 protein. Based on previous literature reports this is the first case of CHARGE syndrome with preaxial polydactyly characterized by this frameshift mutation. This case report allows further delineation of CHARGE syndrome polymorphism. |
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| Terjedelem/Fizikai jellemzők: | 98-100 |
| ISSN: | 0962-8827 |