Objective To explore the clinical phenotypic and molecular genetic characteristics of type 6 Coffin-Siris syndrome(CSS6)and its diagnosis and treatment.Methods The clinical data of 3 children with CSS6 were analyzed retro-spectively,and related literatures were reviewed.Results All 3 children were treated for"growth retardation",with different degrees of rough.face and slow growth of height,but there were some differences in other phenotypes.Molecular genetics showed that ARID2 exon1-16 loss of heterozygosity(131.11 kb,patient 1),ARID2 chr12:46123620-46298861 complete dele-tion(patient 2)and one case of frameshift variant ARID2 exon15:c.3586_3592del:p.I1196Qfs*6(patient 3),the three identified mutation sites have not been reported,which are newly discovered pathogenic variants.Conclusion The identified new ARID2 variant expands the pathogenicity variation spectrum of CSS6.Currently,there is not a set of recognized diagnostic criteria for CSS6,which should be combined with clinical manifestations and molecular genetic tests,and the diagnosis and treatment of complications should be carried out in time after clear diagnosis.
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