Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis
Document title: Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis
Journal: Genetics and molecular biology
Database: PERIÓDICA
System number: 000459216
ISSN: 1415-4757
Authors: 1
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Institutions: 1Universidade Estadual de Campinas, Faculdade de Ciencias Medicas, Campinas, Sao Paulo. Brasil
Year:
Volumen: 45
Number: 1
Country: Brasil
Language: Inglés
Document type: Artículo
Approach: Analítico
English 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
Disciplines: Biología,
Medicina
Keyword: Genética,
Neurología,
Homocigosidad,
Genoma,
Microarreglos genéticos,
Brasil
Keyword: Genetics,
Neurology,
Homozygosity,
Genome,
Genetic microarrays,
Brazil
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