Mutational screening of GLI3, SHH, preZRS , and ZRS in 102 Chinese children with nonsyndromic polydactyly

Background : Polydactyly is a group of congenital limb malformations that show high degree of phenotypic variability and genetic heterogeneity. Results : In the present study, four genomic regions (exons of GLI3, S HH, and noncoding sequences of preZRS and ZRS ) involved in hedgehog (Hh) signaling pathway were sequenced for 102 unrelated Chinese children with nonsyndromic polydactyly. Two GLI3 variants (c.2844 G > G/A; c.1486C > C/T) and four preZRS variants (chr7:156585336 A>G; chr7:156585421 C>A; chr7: 156585247 G>C; chr7:156585420 A > C) were observed in 2(2.0%) and 6(5.9%) patients, respectively. These variants are not over‐represented in the Chinese healthy population. All the 8 cases showed preaxial polydactyly in hands. Additionally, no specific patterns of malformation predicted mutations in other candidate genes or sequences. Conclusions : This is the first report of the assessment of the frequency of GLI3/SHH/preZRS/ZRS in Chinese patients to show any higher possibility of mutations or variants for the 4 genes or sequences in China. Developmental Dynamics 246:392–402, 2017 . © 2017 Wiley Periodicals, Inc.