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A multidisciplinary review of triphalangeal thumb.

ABSTRACT: Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a number of scientifically relevant topics that involve the triphalangeal thumb phenotype. Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understanding of the pathogenesis and molecular mechanisms of this condition as well as other congenital upper limb anomalies.

SUBMITTER: Potuijt JWP

PROVIDER: S-EPMC6297887 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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A multidisciplinary review of triphalangeal thumb.

Potuijt Jacob W P JWP Galjaard Robert-Jan H RH van der Spek Peter J PJ van Nieuwenhoven Christianne A CA Ahituv Nadav N Oberg Kerby C KC Hovius Steven E R SER

The Journal of hand surgery, European volume 20181014 1

Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a numbe ...[more]

PMID: 30318985

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Project description:BackgroundTriphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus responsible for TPT-PS has been mapped to the 7q36.3 region harboring a long-range sonic hedgehog (SHH) regulatory sequence (ZRS). Both single-nucleotide variants and complete duplications of ZRS were shown to cause TPT-PS and similar limb phenotypes. TPT-PS usually forms as isolated limb pathology not associated with additional malformations, in particular, with cardiovascular abnormalities.Case presentationHere we report on a rare Russian neonatal case of TPT-PS combined with severe congenital heart disease, namely double outlet right ventricle, and microphthalmia with optic disc coloboma. Pedigree analysis revealed TPT-PS of various expressivity in 10 family members throughout five generations, while the cardiac defect and the eye pathology were detected only in the proband. To extend the knowledge on genotype-phenotype spectrum of TPT-PS, the careful clinical and genomic analysis of the family was performed. High-resolution array-based comparative genomic hybridization (array-CGH) revealed a ~ 300 kb microduplication of 7q36.3 locus (arr[GRCh37] 7q36.3(156385810_156684811) × 3) that co-segregated with TPT-PS in the proband and her mother. The duplication encompassed three genes including LMBR1, the intron 5 of which is known to harbor ZRS. Based on whole-exome sequencing data, no additional pathogenic mutations or variants of uncertain clinical significance were found in morbid cardiac genes or genes associated with a microphthalmia/anophthalmia/coloboma spectrum of ocular malformations.ConclusionsThe results support the previous data, indicating that complete ZRS duplication underlies TPT-PS, and suggest a broader phenotypic impact of the 7q36.3 microduplication. Potential involvement of the 7q36.3 microduplication in the patient's cardiac and eye malformations is discussed. However, the contribution of some additional genetic/epigenetic factors to the complex patient`s phenotype cannot be excluded entirely. Further comprehensive functional studies are needed to prove the possible involvement of the 7q36.3 locus in congenital heart disease and eye pathology.

Project description:Surgical intervention for thumb duplication can be divided into three categories: simple excision of the accessory thumb, excision of the accessory thumb with reconstruction from available "spare parts," and combining the two thumbs into one, as described by Bilhaut. This prospectively PROSPERO registered systematic review evaluates the overall, aesthetic and functional outcomes for the latter two options (reconstruction from spare parts vs. combining two thumbs into one), aiming to facilitate evidence-based decision making when addressing thumb duplication and direct future research. The review was performed in accordance with the Cochrane Handbook of Systematic Reviews and PRISMA statement. Embase, PubMed, Medline, and Cochrane databases were systematically searched. Studies offering comparisons of techniques were included. Risk of bias was assessed using the Risk of Bias In Non-randomized Studies-of Intervention tool. The quality of the evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluation. Ten retrospective observational studies were included. Data did not consistently allow analysis by procedure type. Four studies reported similar overall outcomes between techniques, while two specifically reported poor overall outcomes for the Bilhaut procedure. Two studies reported comparatively worse aesthetic outcomes for the Bilhaut procedure with four studies reporting comparatively improved functional outcomes for this procedure. Overall, interpretation of outcomes was challenging with no patient-reported outcome measures used. The quality of the evidence was universally "very low" due to all studies being at risk of methodological bias. Based on the available evidence, surgical techniques for thumb duplication correction appear comparable regarding overall outcome. There is limited evidence suggesting reconstruction with spare parts offers superior aesthetic outcomes at the expense of stability. The level of evidence is III.

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A multidisciplinary review of triphalangeal thumb.

Publications

A multidisciplinary review of triphalangeal thumb.

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