Abstract:

Objective To investigate the clinical and genetic characteristics of child sufferer with Coffin-siris syndrome(CSS). Methods The clinical features, laboratory tests and genetic tests of a case of CSS diagnosed in the Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat-sen University from February 2018 to February 2019 were collected. The “CSS”, “ARID1B” and “CSS” were selected as key words, the papers collected by China National Knowledge Infrastructure, Knowledge Service Platform of Wanfang Data and PubMed from January 2010 to November 2019 were retrieved. Clinical features and genetic characteristics of children with CSS were summarized. Results The child sufferer with CSS demonstrated unique facial features, specific skeleton & limb deformities, developmental retardation and cognitive delay, mental retardation, hearing and speech disorder, etc. The mutations of ARID1B genes were almost new mutations, and pathogenic variants were almost cut off. The heterozygous mutation of ARID1B gene c.2248C>T (p.R750*) was detected in the child sufferer, and it was an nonsense mutation. The parents did not carry such mutation, indicating that the mutation was a new mutation. Conclusion CSS is mainly caused by the mutation of ARID1B gene, it is almost new mutation, and no significant genotype-phenotype correlation is found. The heterozygous mutation of ARID1B gene c.2248C>T (p.R750*) in this case is classified to be autologous new mutation, no related gene is reported in China, and the gene mutation spectrum of CSS in China is supported to be enriched.

Key words: Coffin-Siris syndrome, ARID1B gene, codon,nonsense