Screening of variants of unkown significance (VUS) in the RET proto-oncogene in pa...
| Full text | |
| Author(s): |
Gomes, Caio Perez
[1]
;
Marins, Maryana Mara
[1]
;
Motta, Fabiana Louise
[1]
;
Kyosen, Sandra Obikawa
[2]
;
Curiati, Marco Antonio
[2]
;
D'Almeida, Vania
[3]
;
Martins, Ana Maria
[2]
;
Pesquero, Joao Bosco
[1]
Total Authors: 8
|
| Affiliation: | [1] Univ Fed Sao Paulo, Ctr Res & Mol Diag Genet Dis, Dept Biophys, Escola Paulista Med, Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Inborn Errors Metab Reference Ctr, Dept Pediat, Escola Paulista Med, Sao Paulo - Brazil
[3] Univ Fed Sao Paulo, Inborn Errors Metab Lab, Dept Psychobiol, Escola Paulista Med, Sao Paulo - Brazil
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | FRONTIERS IN GENETICS; v. 10, MAR 18 2020. |
| Web of Science Citations: | 0 |
| Abstract | |
Rationale Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. Patient The patient was 5 years and 6 months boy, with developmental delay, hearing loss, hepatosplenomegaly, and skeletal dysplasia. He was diagnosed with mucopolysaccharidosis type II based on clinical manifestations, biochemical and genetic analysis. Outcomes The patient carries a new mutation (c.879-1210\_1007-218del) in hemizygosis in the IDS gene, which was defined as pathogenic according to the 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines and as responsible for the mucopolysaccharidosis type II phenotype in the patient. (AU) | |
| FAPESP's process: | 14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges |
| Grantee: | João Bosco Pesquero |
| Support type: | Research Projects - Thematic Grants |