| Texto completo | |
| Autor(es): |
Silveira, Karina C.
[1]
;
Kanazawa, Thatiane Y.
[1]
;
Silveira, Cynthia
[1]
;
Lacarrubba-Flores, Maria D. J.
[1]
;
Carvalho, Benilton S.
[2]
;
Cavalcanti, Denise P.
[1]
Número total de Autores: 6
|
| Afiliação do(s) autor(es): | [1] Univ Estadual Campinas, UNICAMP, Med Genet, Dept Translat Med, Skeletal Dysplasias Grp, Campinas - Brazil
[2] Univ Estadual Campinas, UNICAMP, Inst Math Stat & Sci Comp, Dept Stat, Campinas - Brazil
Número total de Afiliações: 2
|
| Tipo de documento: | Artigo Científico |
| Fonte: | AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS; v. 187, n. 3, SI SEP 2021. |
| Citações Web of Science: | 0 |
| Resumo | |
Molecular diagnosis is important to provide accurate genetic counseling of skeletal dysplasias (SD). Although next-generation sequencing (NGS) techniques are currently the preferred methods for analyzing these conditions, some of the published results have not shown a detection rate as high as it would be expected. The present study aimed to assess the diagnostic yield of targeted NGS combined with Sanger sequencing (SS) for low-coverage exons of genes of interest and exome sequencing (ES) in a series of patients with rare SD and use two patients as an example of our strategy. This study used two different in-house panels. Of 93 variants found in 88/114 (77%) patients, 57 are novel. The pathogenic variants found in the following genes: B3GALT6, PCYT1A, INPPL1, LIFR, of four patients were only detected by SS. In conclusion, the high diagnostic yield reached in the present study can be attributed to both a good selection of patients and the utilization of the SS for the insufficiently covered regions. Additionally, the two case reports-a patient with acrodysostosis related to PRKAR1A and another with ciliopathy associated with KIAA0753, add new and relevant clinical information to the current knowledge. (AU) | |
| Processo FAPESP: | 98/16006-6 - Estudo da etiopatogenia dos defeitos congenitos de alta morbi-mortalidade no periodo perinatal. |
| Beneficiário: | Denise Pontes Cavalcanti |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 15/22145-6 - Contribuição ao estudo clínico-etiológico das displasias esqueléticas e disostoses no Brasil |
| Beneficiário: | Denise Pontes Cavalcanti |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |