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Functional classification and mutation analysis of a synpolydactyly kindred
The aim of the present study was to analyze a congenital syndactyly/polydactyly kindred and propose a new functional classification method of clinical significance. The modes of inheritance and mutational mechanisms were also determined using genetic analyses. Hand and foot anatomy and functions wer...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186389/ https://www.ncbi.nlm.nih.gov/pubmed/25289061 http://dx.doi.org/10.3892/etm.2014.1957 |
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author | ZHOU, JIANDA CHEN, YAO CAO, KE ZOU, YONGHUA ZHOU, HAIYAN HU, FENG NI, BIN CHEN, YONG |
author_facet | ZHOU, JIANDA CHEN, YAO CAO, KE ZOU, YONGHUA ZHOU, HAIYAN HU, FENG NI, BIN CHEN, YONG |
author_sort | ZHOU, JIANDA |
collection | PubMed |
description | The aim of the present study was to analyze a congenital syndactyly/polydactyly kindred and propose a new functional classification method of clinical significance. The modes of inheritance and mutational mechanisms were also determined using genetic analyses. Hand and foot anatomy and functions were measured using photographic images, X-ray imaging and grip ability tests. Genetic analysis comprised the genotyping of polymorphic microsatellite markers at known polydactyly-associated loci and the sequencing of the candidate gene. A functional classification system was devised to divide the clinical features into three types, which included mild, moderate or severe deformity. The family was concluded to have syndactyly type II with autosomal dominant inheritance. The microsatellites, D2S2310 and D2S2314, at the 2q31–32 chromosome, which have previously been associated with synpolydactyly type I, were found to be associated with the disorder in the current family. A 27-bp insertion mutation was identified in the affected individuals in the HOXD13 gene at this locus. The insertion added a further nine alanine residues to the polyalanine stretch within the encoded protein. In conclusion, the functional classification method described in the present study may be used to guide surgical approaches to treatment. A family was identified in whom expansion of the polyalanine tract in the HOXD13 gene causes autosomal dominant hereditary synpolydactyly. |
format | Online Article Text |
id | pubmed-4186389 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | D.A. Spandidos |
record_format | MEDLINE/PubMed |
spelling | pubmed-41863892014-10-06 Functional classification and mutation analysis of a synpolydactyly kindred ZHOU, JIANDA CHEN, YAO CAO, KE ZOU, YONGHUA ZHOU, HAIYAN HU, FENG NI, BIN CHEN, YONG Exp Ther Med Articles The aim of the present study was to analyze a congenital syndactyly/polydactyly kindred and propose a new functional classification method of clinical significance. The modes of inheritance and mutational mechanisms were also determined using genetic analyses. Hand and foot anatomy and functions were measured using photographic images, X-ray imaging and grip ability tests. Genetic analysis comprised the genotyping of polymorphic microsatellite markers at known polydactyly-associated loci and the sequencing of the candidate gene. A functional classification system was devised to divide the clinical features into three types, which included mild, moderate or severe deformity. The family was concluded to have syndactyly type II with autosomal dominant inheritance. The microsatellites, D2S2310 and D2S2314, at the 2q31–32 chromosome, which have previously been associated with synpolydactyly type I, were found to be associated with the disorder in the current family. A 27-bp insertion mutation was identified in the affected individuals in the HOXD13 gene at this locus. The insertion added a further nine alanine residues to the polyalanine stretch within the encoded protein. In conclusion, the functional classification method described in the present study may be used to guide surgical approaches to treatment. A family was identified in whom expansion of the polyalanine tract in the HOXD13 gene causes autosomal dominant hereditary synpolydactyly. D.A. Spandidos 2014-11 2014-09-11 /pmc/articles/PMC4186389/ /pubmed/25289061 http://dx.doi.org/10.3892/etm.2014.1957 Text en Copyright © 2014, Spandidos Publications http://creativecommons.org/licenses/by/3.0 This is an open-access article licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License. The article may be redistributed, reproduced, and reused for non-commercial purposes, provided the original source is properly cited. |
spellingShingle | Articles ZHOU, JIANDA CHEN, YAO CAO, KE ZOU, YONGHUA ZHOU, HAIYAN HU, FENG NI, BIN CHEN, YONG Functional classification and mutation analysis of a synpolydactyly kindred |
title | Functional classification and mutation analysis of a synpolydactyly kindred |
title_full | Functional classification and mutation analysis of a synpolydactyly kindred |
title_fullStr | Functional classification and mutation analysis of a synpolydactyly kindred |
title_full_unstemmed | Functional classification and mutation analysis of a synpolydactyly kindred |
title_short | Functional classification and mutation analysis of a synpolydactyly kindred |
title_sort | functional classification and mutation analysis of a synpolydactyly kindred |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186389/ https://www.ncbi.nlm.nih.gov/pubmed/25289061 http://dx.doi.org/10.3892/etm.2014.1957 |
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