Clinical and molecular study of Egyptian patients with Treacher Collins syndrome.

Autor:	Elbagoury NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre., Nabil A; Human Genetics Department, Medical Research Institute, Alexandria University., Abdel-Aleem AF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre., Habib A; Maxillofacial and Plastic Surgery Department, Faculty of Dentistry, Alexandria University., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Egypt., Sharaf-Eldin WE; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre., Esswai ML; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre.
Jazyk:	angličtina
Zdroj:	Clinical dysmorphology [Clin Dysmorphol] 2023 Oct 01; Vol. 32 (4), pp. 156-161. Date of Electronic Publication: 2023 Jul 04.
DOI:	10.1097/MCD.0000000000000470
Abstrakt:	Treacher Collins syndrome (TCS) is a rare disorder of craniofacial development following different patterns of inheritance. To date, mutations in four genes ( TCOF1, POLR1D, POLR1C , and POLR1B ) have been found to cause the condition. The molecular defect remains unidentified in a significant proportion of patients. In the current study, whole exome sequencing including analysis of copy number variants was applied for genetic testing of eight Egyptian patients with typical TCS phenotype, representing the first molecular analysis of TCS patients in Egypt as well as in Arab countries. Five heterozygous frameshift mutations were reported, including four variants in the TCOF1 gene (c.3676_3694delinsCTCTGG, c.3984_3985delGA, c.4366_4369delGAAA, and c.3388delC) and one variant in the POLR1D gene (c.60dupA). Four variants were novel extending the disease mutation spectrum. In three affected individuals, no variants of interest were identified in genes associated with TCS or clinically overlapping conditions. Additionally, no relevant variant was detected in genes encoding other subunits of RNA polymerase (pol) I. Molecular analysis is important to provide accurate genetic counseling. It would also contribute to reduced disease incidence. Further studies should be designed to investigate other possible etiologies when no pathogenic variants were revealed in either of the known genes. (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
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