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Greig cephalopolysyndactyly syndrome caused by novel GLI 3 mutation : a family report
| Content Provider | Semantic Scholar |
|---|---|
| Author | Tang, Ying Ge, Juan Li, Tang |
| Copyright Year | 2019 |
| Abstract | To investigate the clinical feature and gene mutaiton of Greig cephalopolysyndactyly syndrome (GCPS). The clinical data and the whole exome sequencing results of two patients with GCPS in the same family were retrospectively analyzed. The related literatures were reviewed. The propositus was a 7-month-old girl who manifested a prominent forehead and widely spaced eyes, but have no evident growth developmental retardation. Her mother, 25-year-old, manifested a prominent forehead, macrocephaly, hypertelorism, broad thumbs and halluces in both hands and feet, and scoliosis. A novel missense mutation in GLI3 gene was found by whole exon sequencing of the proband, which caused the 478th amino acid of the GLI3 gene encoded protein which changed from tyrosine to cysteine acid. The GLI3 mutation was identified in his mother by Sanger sequencing. Her father GLI3 gene was normal. The same missense mutation was not retrieved in the HGMD. Reports of the mutation were not found in the previous research. It may be a new mutation. The GCPS is a pleiotropic, multiple congenital anomaly syndrome caused by GLI3 gene mutation or deletion. More than 70 GLI3 gene mutation sites with GCPS had been reported and the most common type was frame shift mutations. Awareness by clinicians of the array of phenotypes manifest in GCPS and gene detection will aid in clinical diagnosis. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.cancercellresearch.org/PDF/20192204.pdf |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
