Chapter title |
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants
|
---|---|
Chapter number | 112 |
Book title |
JIMD Reports, Volume 43
|
Published in |
JIMD Reports, January 2018
|
DOI | 10.1007/8904_2018_112 |
Pubmed ID | |
Book ISBNs |
978-3-66-258613-6, 978-3-66-258614-3
|
Authors |
D. Quelhas, J. Jaeken, A. Fortuna, L. Azevedo, A. Bandeira, G. Matthijs, E. Martins, Quelhas, D., Jaeken, J., Fortuna, A., Azevedo, L., Bandeira, A., Matthijs, G., Martins, E. |
Abstract |
This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G >gt; A (p.G276D), c.73C >gt; T (p.R25W), and c.208T >gt; C (p.C70R). |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 11 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 2 | 18% |
Student > Ph. D. Student | 2 | 18% |
Other | 2 | 18% |
Researcher | 1 | 9% |
Student > Bachelor | 1 | 9% |
Other | 0 | 0% |
Unknown | 3 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 4 | 36% |
Medicine and Dentistry | 2 | 18% |
Neuroscience | 1 | 9% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 9% |
Unknown | 3 | 27% |