Résumé
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.
Sujets)
Enfant , Femelle , Humains , Doigts , Mutation , Protéines nucléaires/génétique , Polydactylie/génétique , Orteils , Protéine à doigts de zinc Gli2/génétiqueRésumé
Type 1 diabetes mellitus(T1DM) is one of the most common chronics autoimmune disease of childhood with no effective prevention and curative treatment.Improving clinical understanding of the pathogenesis and onset of T1 DM in children,improving the rate of pre-diagnosis,carrying out effective clinical intervention timely is one of the hot fields in diagnosis and treatment of diabetes in children.This paper will make a review of domestic and international literature of the recent 3 to 5 years.