Zulvikar Syambani Ulhaq, Dian Kesumapramudya Nurputra, Gita Vita Soraya, Siti Kurniawati, Lola Ayu Istifiani, Syafrizal Aji Pamungkas, William Ka Fai Tse
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.4369_4373delAAGAA 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.
Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture, Kyushu University, Fukuoka, Japan; Research Center for Pre-clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia; Department of Biomedical Science, Faculty of Medicine and Health Sciences, Maulana Malik Ibrahim State Islamic University, Batu, Indonesia; Department of Child Health, Faculty of Medicine, Gadjah Mada University, Yogyakarta, Indonesia; Department of Biochemistry, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia; Department of Neurology, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia; Department of Clinical Microbiology, Faculty of Medicine, Brawijaya University, Malang, Indonesia; Department of Nutrition, Faculty of Medicine, Brawijaya University, Malang, Indonesia; Al-Falah Social Fund Foundation Clinic (YDSF), Malang, Indonesia
