Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report

• Published in: BMC pediatrics Vol. 21; no. 1; p. 46
• Main Authors: Gu, Shuchen, Khoong, Yimin, Huang, Xin, Zan, Tao
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 21.01.2021; BioMed Central; BMC
• Subjects: Birth defects; Case Report; Case reports; Case studies; Childrens health; Diagnosis; Discovery and exploration; Extracellular matrix; Face; FREM1 gene; Gene mutations; Genotype & phenotype; Health aspects; MOTA syndrome; Multiple abnormalities; Mutation; Pediatric research; Pediatrics; China; Case report; FREM1 gene; Mutation; MOTA syndrome
• ISSN: 1471-2431; 1471-2431
• DOI: 10.1186/s12887-021-02506-5

Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.