A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

Volodarsky, Michael; Langer, Yshaia; Birk, Ohad S.

doi:10.1186/s12881-014-0110-9

Cited by 18 publications

(14 citation statements)

References 13 publications

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“…b). The Forme Fruste preaxial duplication of the feet was also recently demonstrated by Volodarsky et al in a family with PPD IV and a GLI3 missense mutation predicting His601Arg within the ZFD .…”

Section: Gli3‐related Syndromes/conditionssupporting

confidence: 61%

GLI3‐related polydactyly: a review

et al. 2017

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GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. This is followed by a detailed review of the genotype-phenotype correlations. Based on our review of the literature and our clinical experiences, we recommend viewing GLI3-related syndromes/conditions as four separate entities; each characterized by a specific pattern of polydactyly. These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome. We also provide illustrative clinical examples from our practice including a family with a novel GLI3 mutation causing PHS. The review also introduces the term 'Forme Fruste' preaxial polydactyly and gives several conclusions/recommendations including the recommendation to revise the current criteria for the clinical diagnosis of PHS.

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Section: Gli3‐related Syndromes/conditionssupporting

confidence: 61%

GLI3‐related polydactyly: a review

et al. 2017

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“…The GLI3 protein localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. Mutations in the limb development related gene GLI3 have been associated with polydactyly (Volodarsky et al 2014 ). SNP rs929387, located in exon 14 of the GLI3 gene, has transmission disequilibrium in 84 nuclear pedigrees, showing the association between the GLI3 gene and occurrence of ICTEV (Zha et al 2006 ).…”

Section: Resultsmentioning

confidence: 99%

A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years

Yong¹,

Xun²,

Zhao

et al. 2016

SpringerPlus

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The genetic cause of idiopathic congenital talipes equinovarus (ICTEV) is largely unknown. We performed a systematic review to describe the findings from 21 studies that have examined the genetic variants related to ICTEV, and to evaluate the quality of reporting. We found that ICTEV was positively associated with Hox family genes, collagen family genes, GLI3, N-acetylation genes, T-box family genes, apoptotic pathway genes, and muscle contractile family genes. Negative and controversial results were also discussed, and several genes associated with ICTEV were identified. Due to the limitation of the included studies, rare coding variants should be further investigated, sample size should be enlarged, and candidate genes should be replicated in larger ICTEV populations. Epigenetic study, pathways, chromosome capture, and detailed gene-environment interaction will also allow further elucidation of factors involved in ICTEV pathogenesis and may shed light on diagnosis and timely and accurate interventions.

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“…[ 1 ] Congenital syndactyly has a strong familial tendency, and is usually bilateral. [ 2 , 3 ] The condition may present as an isolated abnormality, or in association with complex conditions such as Poland syndrome, Apert syndrome, or cleft hand. [ 4 ]…”

Section: Introductionmentioning

confidence: 99%

The use of a dorsal double-wing flap without skin grafts for congenital syndactyly treatment

Dong

Wang

2017

Medicine

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Numerous techniques have been developed that use various flaps to treat syndactyly. Skin grafts have often been used to cover remaining surgical defects. The long-term aim of surgery is to find new methods of separating the digits without using skin grafts. This paper describes a new surgical technique for the correction of simple, incomplete, and complete syndactyly. The technique consists of a dorsal double-wing flap to cover the newly created web space and zigzag incisions in the fingers, thus avoiding the use of skin grafts in this space. Overall, 35 web spaces in 24 patients were treated using this technique. Patient follow-up ranged from 6 months to nearly 5 years. There were no complications such as hematoma, infection or flap necrosis, and no fingers needed skin grafts after separation. The average operative time for each web space was approximately 45 minutes. Ninety-seven percent of patients treated with the dorsal double-wing flap procedure achieved good function, and superior cosmetic results following a single surgery. The technique is simple, rapid, safe, and easily performed and does not require the use of skin grafts.

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A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

Cited by 18 publications

References 13 publications

GLI3‐related polydactyly: a review

GLI3‐related polydactyly: a review

A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years

The use of a dorsal double-wing flap without skin grafts for congenital syndactyly treatment

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