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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias

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Author(s):
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]
Total Authors: 6
Affiliation:
[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
Total Affiliations: 2
Document type: Journal article
Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS; v. 187, n. 3, SI SEP 2021.
Web of Science Citations: 0
Abstract

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)

FAPESP's process: 15/22145-6 - Contribution to the clinical and etiological study of the skeletal dysplasias and dysostosis in Brazil
Grantee:Denise Pontes Cavalcanti
Support Opportunities: Regular Research Grants