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- Title
Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability.
- Authors
Karim, Sajjad; Hussein, Ibtessam Ramzi; Schulten, Hans-Juergen; Alsaedi, Saad; Mirza, Zeenat; Al-Qahtani, Mohammed; Chaudhary, Adeel
- Abstract
Chromosomal imbalance is implicated in developmental delay (DD), congenital malformations (CM), and intellectual disability (ID), and, thus, precise identification of copy number variations (CNVs) is essential. We therefore aimed to investigate the genetic heterogeneity in Saudi children with DD/CM/ID. High-resolution array comparative genomic hybridization (array CGH) was used to detect disease-associated CNVs in 63 patients. Quantitative PCR was done to confirm the detected CNVs. Giemsa banding-based karyotyping was also performed. Array CGH identified chromosomal abnormalities in 24 patients; distinct pathogenic and/or variants of uncertain significance CNVs were found in 19 patients, and aneuploidy was found in 5 patients including 47,XXY (n = 2), 45,X (n = 2) and a patient with trisomy 18 who carried a balanced Robertsonian translocation. CNVs including 9p24p13, 16p13p11, 18p11 had gains/duplications and CNVs, including 3p23p14, 10q26, 11p15, 11q24q25, 13q21.1q32.1, 16p13.3p11.2, and 20q11.1q13.2, had losses/deletions only, while CNVs including 8q24, 11q12, 15q25q26, 16q21q23, and 22q11q13 were found with both gains or losses in different individuals. In contrast, standard karyotyping detected chromosomal abnormalities in ten patients. The diagnosis rate of array CGH (28%, 18/63 patients) was around two-fold higher than that of conventional karyotyping (15.87%, 10/63 patients). We herein report, for the first time, the extremely rare pathogenic CNVs in Saudi children with DD/CM/ID. The reported prevalence of CNVs in Saudi Arabia adds value to clinical cytogenetics.
- Subjects
SAUDI Arabia; REVERSE transcriptase polymerase chain reaction; ANEUPLOIDY; 22Q11 deletion syndrome; NUCLEIC acid hybridization; DEVELOPMENTAL disabilities; HUMAN abnormalities; KARYOTYPES; CHROMOSOME abnormalities; RESEARCH funding; INTELLECTUAL disabilities; RARE diseases; DISEASE risk factors; DISEASE complications
- Publication
Children, 2023, Vol 10, Issue 4, p662
- ISSN
2227-9067
- Publication type
Academic Journal
- DOI
10.3390/children10040662