[Clinical characteristics and genetic analysis of a case of ciliopathy caused by novel WDR19 gene variants].

An 8-year-old girl with growth failure and multisystem involvement was admitted to the Institute of Medical Genetics at Henan Provincial People's Hospital in May 2022. She presented with craniofacial abnormalities, language delay, and psychomotor retardation, suggestive of Sensenbrenner syndrome. Whole-exome sequencing and Sanger sequencing performed on the family revealed that the proband carried two novel compound heterozygous mutations in the WDR19 gene: c.1574A>G (p.Asn525Ser) and c.196G>A (p.Gly66Arg), inherited from her father and mother, respectively. Bioinformatics analysis indicated that the amino acids encoded by these two variants are highly conserved across multiple species and that these mutations may alter the secondary and tertiary structures of the protein, potentially affecting its phosphorylation and glycosylation properties. These findings suggest that these variants likely constitute the genetic basis underlying the clinical manifestations observed in the proband. The present case expands the known mutation spectrum of the WDR19 gene, provides new evidence for the diagnosis of Sensenbrenner syndrome.