Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child featuring short stature and postaxial polydactyly.@*METHODS@#A child who presented at Ningbo Women & Children's Hospital in May 2021 due to the"discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members.@*RESULTS@#The child was found to harbor a heterozygous c.3670C>T (p.Q1224) variant of the GLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent.@*CONCLUSION@#The child was diagnosed with Culler-Jones syndrome. The c.3670C>T (p.Q1224*) variant of the GLI2 gene probably underlay the disease in this child.