Résumé
The main clinical phenotypes, imaging features and genetic test results of a child with Joubert syndrome treated in Shenzhen Children′s Hospital in July 2020 were analyzed retrospectively, and the literature on Joubert syndrome was summarized.The main manifestations of the protester during infancy were respiratory abnormalities and developmental retardation.The brain magnetic resonance imaging (MRI) showed a " molar sign" , which was consistent with the diagnosis of Joubert syndrome.Genetic testing suggested that the protestor carried complex heterozygous variations of KIAA0586 gene.Two variants were not reported previously, one of which was synonymous mutation.The child is the first case of Joubert syndrome caused by KIAA0586 gene in China.Joubert syndrome is a rare congenital brain development malformation characterized by high clinical heterogeneity and MRI molar signs.It may involve multiple systems.Early identification and intervention can improve outcomes.
Résumé
Objective To investigate the association of the single nucleotide polymorphisms (SNPs) in exon 4 of ZNF804A gene with schizophrenia in a family-trios sample. Methods MassARRAY genotyping technique and the transmission disequilibrium test (TDT) were employed to study the association of SNPs (seven nonsynonymous and two intronic) encompassing exon 4 of ZNF804A gene with schizophrenia in 69 nuclear families. Results (1) Four SNPs (rs79776875, rs78816540, rs79082132 and rs62198467) in this study were found to be rare variants (0