{Reference Type}: Journal Article
{Title}: Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
{Author}: Wang RY;Xiong Q;Chang SH;Jin JY;Xiang R;Zeng L;Yu F;
{Journal}: J Orthop Surg Res
{Volume}: 19
{Issue}: 1
{Year}: 2024 Jul 30
{Factor}: 2.677
{DOI}: 10.1186/s13018-024-04928-0
{Abstract}: <B>BACKGROUND: </B>Polydactyly is a prevalent congenital anomaly with an incidence of 2.14 per 1000 live births in China. GLI family zinc finger 3 (GLI3) is a classical causative gene of polydactyly, and serves as a pivotal transcription factor in the hedgehog signaling pathway, regulating the development of the anterior-posterior axis in limbs.<BR><B>METHODS: </B>Three pedigrees of polydactyly patients were enrolled from Hunan Province, China. Pathogenic variants were identified by whole-exome sequencing (WES) and Sanger sequencing.<BR><B>RESULTS: </B>Three variants in GLI3 were identified in three unrelated families, including a novel deletion variant (c.1372del, p.Thr458GlnfsTer44), a novel insertion-deletion (indel) variant (c.1967_1968delinsAA, p.Ser656Ter), and a nonsense variant (c.2374 C > T, p.Arg792Ter). These variants were present exclusively in patients but not in healthy individuals.<BR><B>CONCLUSIONS: </B>We identified three pathogenic GLI3 variants in polydactyly patients, broadening the genetic spectrum of GLI3 and contributing significantly to genetic counseling and diagnosis for polydactyly.