Clinical study of 459 polydactyly cases in China, 2010 to 2014

Abstract

Polydactyly is one of the most common hereditary limb malformations, involving additional digits on the hands and/or feet, which is a very attractive model to appreciate clinical and genetic heterogeneity. A high level of heterogeneity in polydactyly has been identified in different regions. However, such data of the medical literatures for Asian populations are relatively limited. This study was intended to shed light on the phenotypic manifestations of polydactyly in the recruited Chinese population and to characterize the medical literature on this condition. A total of 459 well-characterized polydactyly cases from Shanghai Children's Medical Center were recruited. Their phenotypes, inheritance patterns, and clinical heterogeneity were obtained from clinical medical records. It was found that 4.8% of cases were familial and 95.2% were sporadic. The proportions of preaxial and postaxial polydactyly types were 74.7% and 25.3%, respectively. In preaxial polydactyly, type I formed the overwhelming majority (95.9%). Among the postaxial polydactyly cases, type A was most prevalent at 69.8% and type B was witnessed in 30.2% of cases. Familial and sporadic polydactyly patients mainly had unilateral presentations. A total of 583 limbs with additional digits were recorded in the 459 subjects. Upper limb involvement was more common than lower, and right hand involvement was more common than left for preaxial polydactyly, and lower limb involvement was more common than upper in postaxial polydactyly. This cohort added useful clinical/epidemiological information to the polydactyly literature in the Chinese population and highlighted its marked clinical heterogeneity.

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

“…The hypothesis is that individuals of certain ethnicities often exhibit nonsyndromic GLI3 mutations have been reported in Indian, Saudi, Chinese, Japanese, and Polish individuals with nonsyndromic polydactyly (Fujioka et al, ; Cheng et al, ; Jonestone et al, ; Jamsheer et al, ; Al‐Qattan, ; Malik et al, ), whereas many GLI3 mutations were detected in Caucasian individuals with syndromic polydactyly. In our previous study, nonsyndromic preaxial polydactyly type I was found to be the most common and nonsyndromic postaxial polydactyly type A was the second most common in the recruited Chinese cohort, which was different from other reports (Xiang et al, ). This hypothesis is consistent with the fact that the frequency of syndromic polydactyly differs in different ethnic groups (e.g., Caucasians have a much higher frequency of syndromic presentation than African Americans).…”

“…The sporadic occurrence was one of the inclusion criteria of the study. The others were the same as those previously reported (Talamillo et al, 2005;Malik and Grzeschik, 2008;Malik, 2012;Xiang et al, 2016b). Written consent was obtained from the parents or guardians of all patients before blood sample collection, and the study was approved by the Ethical Review Committee of Shanghai Children's Medical Center.…”

ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics

“…In this study, the proportion of male patients was 61.68% (103/167). This study showed that overwhelming majority of PPD I/II were unilateral (85.83%, 109/127), in which PPD, on the right hand, accounted for almost two-thirds (66.06%, 72/109), consistent with previous studies ( 19 , 20 ).…”

“…Polydactyly is the most common limb malformation in China and PPD is over half (data from National Stocktaking Report on Birth Defect Prevention) 5 . PPD I is the most common subtype and PPD III is rarest ( 2 , 19 ). In this study, 125 cases (74.85%, 125/167) had PPD I and only one patient (1.80%, 1/167) was diagnosed with PPD III.…”

“…These complications were relatively frequent in patients with PPD. Male patients with PPD are approximately twice as many as female ( 19 ). In this study, the proportion of male patients was 61.68% (103/167).…”