A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity

Ulhaq, Zulvikar Syambani and Nurputra, Dian Kesumapramudya and Soraya, Gita Vita and Kurniawati, Siti and Istifiani, Lola Ayu and Pamungkas, Syafrizal Aji and Tse, William Ka Fai (2023) A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity. Clinical Genetics, 103 (2). 146 -155. ISSN 00099163

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Abstract

Treacher Collins syndrome (TCS, OMIM: 154500) is a rare congenital craniofacial disorder that is caused by variants in the genes TCOF1, POLR1D, POLR1C, and POLR1B. Studies on the association between phenotypic variability and their relative variants are very limited. This systematic review summarized the 53 literatures from PubMed and Scopus to explore the potential TCS genotype–phenotype correlations with statistical analysis. Studies reporting both complete molecular genetics and clinical data were included. We identified that the molecular anomaly within TCOF1 (88.71) accounted for most TCS cases. The only true hot spot for TCOF1 was detected in exon 24, with recurrent c.43694373delAAGAA variant is identified. While the hot spot for POLR1D, POLR1C, and POLR1B were identified in exons 3, 8, and 15, respectively. Our result suggested that the higher severity level was likely to be observed in Asian patients harboring TCOF1 variants rather than POLR1. Moreover, common 5-bp deletions tended to have a higher severity degree in comparison to any variants within exon 24 of TCOF1. In summary, this report suggested the relationship between genetic and clinical data in TCS. Our findings could be used as a reference for clinical diagnosis and further biological studies. © 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Item Type: Article
Additional Information: Cited by: 15
Uncontrolled Keywords: DNA-Directed RNA Polymerases; Genetic Association Studies; Humans; Mandibulofacial Dysostosis; Molecular Biology; Mutation; Phosphoproteins; methionine; valine; DNA directed RNA polymerase; phosphoprotein; POLR1D protein, human; Asian; atresia; Caucasian; chi square test; choana atresia; cleft palate; clinical study; computer model; conduction deafness; data extraction; disease severity; ethnicity; exon; external auditory canal; facies; functional disease; gene; gene deletion; genetic variability; genotype phenotype correlation; human; hypoplasia; information retrieval; intellectual impairment; malar hypoplasia; mandible hypoplasia; mandibulofacial dysostosis; Medline; microtia; molecular genetics; open reading frame; palpebral fissure; POLR1B gene; POLR1C gene; POLR1D gene; psychomotor disorder; Review; Scopus; scoring system; speech disorder; start codon; systematic review; TCOF1 gene; Teber scoring system; Vincent scoring system; genetic association study; genetics; mandibulofacial dysostosis; molecular biology; mutation
Subjects: R Medicine > RJ Pediatrics > RJ101 Child Health. Child health services
Depositing User: Mukhotib Mukhotib
Date Deposited: 26 Aug 2024 02:10
Last Modified: 26 Aug 2024 02:10
URI: https://ir.lib.ugm.ac.id/id/eprint/3580

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