| Full text | |
| Author(s): |
Gabriela Roldão Correia-Costa
[1]
;
Ilária Cristina Sgardioli
[2]
;
Ana Paula dos Santos
[3]
;
Tânia Kawasaki de Araujo
[4]
;
Rodrigo Secolin
[5]
;
Iscia Lopes-Cendes
[6]
;
Vera Lúcia Gil-da-Silva-Lopes
[7]
;
Társis Paiva Vieira
[8]
Total Authors: 8
|
| Affiliation: | [1] Universidade de Campinas. Faculdade de Ciências Médicas. Departamento de Medicina Translacional - Brasil
[2] Universidade de Campinas. Faculdade de Ciências Médicas. Departamento de Medicina Translacional - Brasil
[3] Universidade de Campinas. Faculdade de Ciências Médicas. Departamento de Medicina Translacional - Brasil
[4] Universidade de Campinas. Faculdade de Ciências Médicas. Departamento de Medicina Translacional - Brasil
[5] Universidade de Campinas. Faculdade de Ciências Médicas. Departamento de Medicina Translacional - Brasil
[6] Universidade de Campinas. Faculdade de Ciências Médicas. Departamento de Medicina Translacional - Brasil
[7] Universidade de Campinas. Faculdade de Ciências Médicas. Departamento de Medicina Translacional - Brasil
[8] Universidade de Campinas. Faculdade de Ciências Médicas. Departamento de Medicina Translacional - Brasil
Total Affiliations: 8
|
| Document type: | Journal article |
| Source: | GENETICS AND MOLECULAR BIOLOGY; v. 45, n. 1 2022-02-28. |
| Abstract | |
Abstract Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies, and to compare these data with a control group. Data consisted of calls of homozygosity from 265 patients and 289 controls. In total, 7.2% (19/265) of the patients showed multiple ROH exceeding 1% of autosomal genome, compared to 1.4% (4/289) in the control group (p=0.0006). Homozygosity ranged from 1.38% to 22.12% among patients, and from 1.53 to 2.40% in the control group. In turn, 1.9% (5/265) of patients presented ROH ≥10Mb in a single chromosome, compared to 0.3% (1/289) of individuals from the control group (p=0.0801). By excluding cases with reported consanguineous parents (15/24), the frequency of increased ROH was 3.4% (9/250) among patients and 1.7% (5/289) in the control group, considering multiple ROH exceeding 1% of the autosome genome and ROH ≥10Mb in a single chromosome together, although not statistically significant (p=0.1873). These results reinforce the importance of investigating ROH, which with complementary diagnostic tests can improve the diagnostic yield for patients with such conditions. (AU) | |
| FAPESP's process: | 18/08890-9 - Detection and consequences of imbalances in the human genome |
| Grantee: | Társis Antônio Paiva Vieira |
| Support Opportunities: | Regular Research Grants |
| FAPESP's process: | 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts |
| Grantee: | Vera Lúcia Gil da Silva Lopes |
| Support Opportunities: | Research Grants - Research in Public Policies for the National Health Care System (PP-SUS) |