Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Yan,Zhiqiang; Lu,Yu; Wang,Yanfei; Zhang,Xiuju; Duan,Hong; Cheng,Jing; Yuan,Huijun; Han,Dongyi

doi:10.3892/etm.2018.6446

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Authors:
- Zhiqiang Yan
- Yu Lu
- Yanfei Wang
- Xiuju Zhang
- Hong Duan
- Jing Cheng
- Huijun Yuan
- Dongyi Han
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Affiliations: Department of Otolaryngology, Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, P.R. China, Medical Genetics Center, First Affiliated Hospital, Army Medical University, Chongqing 400038, P.R. China
Published online on: July 16, 2018 https://doi.org/10.3892/etm.2018.6446
Pages: 2645-2650

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Abstract

Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral ﬁssures and malformation of the external and middle ear. Worldwide, 90% of cases of TCS are caused by mutations in the TCOF1 gene, which are inherited via an autosomal dominant pattern, while <2% cases are caused by POLR1D and POLR1C genes, which are inherited via autosomal dominant and autosomal recessive patterns, respectively. The present study describes the clinical findings and molecular diagnostics of a Chinese family with TCS. TCS was diagnosed in a 9‑year‑old female Chinese proband and her mother, while no craniofacial abnormalities were apparent in other family members. Exons of the TCOF1 gene and segregation analysis were used to examine causative mutations using the Sanger sequencing approach. A single novel heterozygous mutation in TCOF1 exon 3 splicing site c.165‑1G>A was detected in the proband. Furthermore, the same mutation was identified in her mother, but not in other family members. These results suggest that c.165‑1G>A is a novel heterozygous mutation of the TCOF1 gene that caused the development of TCS in the proband and her mother. The TCOF1 mutation that was identified in proband was inherited from her mother and so can be considered as de novo mutation.

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