Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome

Marszałek-Kruk, Bożena; Śmigiel, Robert; Sąsiadek, Maria M.

doi:10.1016/j.pepo.2014.09.006

Cited by 5 publications

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References 14 publications

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“…Of the 394 initial screened literature records, 334 records were excluded after reviewing the abstract, while 60 full articles were assessed for eligibility, 10 of them were excluded (due to no clinical features data), resulting in 43 TCOF1 1,2,8,13,17–55 and 10 POLR1 related studies 1,4,5,7,17,55–58 . Among them, there were three studies including both TCOF1 and POLR1D 1,17,55 .…”

Section: Resultsmentioning

confidence: 99%

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

et al. 2022

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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.

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Section: Resultsmentioning

confidence: 99%

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

et al. 2022

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“…Over 200 mutations have been reported in the TCOF1 gene including deletions, insertions, substitutions [ 15 , 22 , 23 , 24 , 25 , 26 , 27 ]. Exons 10, 15, 16, 23 and 24 are hotspots in TCOF1 .…”

Section: Geneticsmentioning

confidence: 99%

Treacher Collins Syndrome: Genetics, Clinical Features and Management

Marszałek-Kruk

Wójcicki

Dowgierd

et al. 2021

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Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the TCOF1, POLR1D, POLR1C and POLR1B genes. Genetically, the TCOF1 gene contains 27 exons which encodes the Treacle protein. In TCOF1, over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.

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The role of genetic factors in microtia: A systematic review

et al. 2022

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Background: Microtia is a congenital malformation of the outer ears caused by improper embryonic development. The origin of microtia and causes of its variations remain unknown. Because of the lack of clarity regarding the role of genetic variables in microtia, we conducted a systematic review to qualitatively identify the genes most important in the development of microtia to provide an up-to-date review. Methods: Using six search engines, we searched all published studies related to the genetic factors of isolated microtia and syndromic microtia. The identified publications were screened and selected based on inclusion and exclusion criteria by the authors and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 studies, including 22 studies on syndromic microtia and 18 studies on isolated microtia. Data extraction of each study was arranged in tabulation for syndromic and isolated microtia. The extracted data were: first author’s surname, year of publication, country of origin, study design, sample characteristic and gene assessed. Results: After the data were extracted, analyzed, and reviewed, the most common gene suspected to be involved in isolated microtia was Homeobox A2 (HOXA2, 12.1%). Conversely, in syndromic microtia, the two most common genes supposed to play a role were Fibroblast Growth Factor 3 (FGF3, 47.2%) and Treacher–Collins–Franceschetti syndrome 1 (TCOF1, 30.2%). From the studies, the three most prevalent genes associated with microtia were HOXA2 (10%), FGF3 (8.4%), and TCOF1 (5.4%). In syndromic microtia, the most common mutation types were deletion in TCOF1 (46.9%) and missense and deletion in FGF3 (both 38%), and in isolated microtia, the most common mutation type was silent in HOXA2 (54.2%). Conclusions: In summary, genetic factors are involved in microtia; thus, molecular analysis is strongly advised. PROSPERO registration: CRD42021287294 (25/10/21).

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Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome

Cited by 5 publications

References 14 publications

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

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

Treacher Collins Syndrome: Genetics, Clinical Features and Management

The role of genetic factors in microtia: A systematic review

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