CDK10 gene mutation in a Chinese girl with Al Kaissi syndrome

Abstract

Abstract Background Al Kaissi syndrome is an autosomal recessive developmental disorder caused by variants in the CDK10 gene with a variable clinical presentation characterized by growth retardation, spinal deformities, especially the cervical spine, facial deformities, psychomotor development retardation with moderate to severe intellectual disability.Methods A 9 years and 5 months old Chinese girl with short stature, mental retardation, special facial features, sacral and coccygeal "Dimple"-like depression, a slightly smaller pituitary gland, and cervical spine deformity was diagnosed with Al Kaissi syndrome by whole-exome sequencing showing a CDK10 gene mutation.Results Gene sequencing results showed that the child had a heterozygous mutation c.739C > T (p.Q247X) (NM_052988 exon 10) and a mutation c.663C > G > T (p.D221E) (NM_052988 exon 9) in the CDK10 gene. The compound heterozygous mutation was verified by one generation of the family. This conforms to the recessive inheritance pattern of the disease. The associated disease is consistent with the clinical manifestations of the patient. The compound heterozygous mutation can lead to the occurrence of the disease.Conclusion The first case of Al Kaissi syndrome reported in China expands the phenotypic and genotypic spectrum of Al Kaissi syndrome.