Cargando…

KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3

Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 wer...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Jingchang, Ye, Qingqing, Deng, Daming, Yan, Jianhua, Lin, Houbian, Shen, Tao, Lin, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042766/
https://www.ncbi.nlm.nih.gov/pubmed/27513105
http://dx.doi.org/10.3892/mmr.2016.5624
_version_ 1782456646490914816
author Chen, Jingchang
Ye, Qingqing
Deng, Daming
Yan, Jianhua
Lin, Houbian
Shen, Tao
Lin, Ying
author_facet Chen, Jingchang
Ye, Qingqing
Deng, Daming
Yan, Jianhua
Lin, Houbian
Shen, Tao
Lin, Ying
author_sort Chen, Jingchang
collection PubMed
description Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 were identified. The patients and their family members were subjected to comprehensive ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, assessment of palpebral fissure size, levator function, ocular motility, and cover and forced duction tests. Genomic DNA was extracted from the leukocytes of venous blood samples collected from the two families and from 200 unrelated control subjects from the same population. Coding exons of the KIF21A gene were amplified using polymerase chain reaction analysis and sequenced directly in the two probands. The detected mutations were further analyzed in all available family members and the unrelated control subjects. A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in the two families, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects. Among the three affected family members with CFEOM1, differences were observed with regard to the presence of aberrant eye movement. The results indicated that, in the patients with CFEOM1 and CFEOM3, the disease was caused by the same KIF21A gene mutation. The KIF21A gene may be a major disease-causing gene for Chinese patients with CFEOM3. Phenotypic heterogeneity was observed in the patients with CFEOM1.
format Online
Article
Text
id pubmed-5042766
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher D.A. Spandidos
record_format MEDLINE/PubMed
spelling pubmed-50427662016-10-05 KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3 Chen, Jingchang Ye, Qingqing Deng, Daming Yan, Jianhua Lin, Houbian Shen, Tao Lin, Ying Mol Med Rep Articles Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 were identified. The patients and their family members were subjected to comprehensive ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, assessment of palpebral fissure size, levator function, ocular motility, and cover and forced duction tests. Genomic DNA was extracted from the leukocytes of venous blood samples collected from the two families and from 200 unrelated control subjects from the same population. Coding exons of the KIF21A gene were amplified using polymerase chain reaction analysis and sequenced directly in the two probands. The detected mutations were further analyzed in all available family members and the unrelated control subjects. A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in the two families, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects. Among the three affected family members with CFEOM1, differences were observed with regard to the presence of aberrant eye movement. The results indicated that, in the patients with CFEOM1 and CFEOM3, the disease was caused by the same KIF21A gene mutation. The KIF21A gene may be a major disease-causing gene for Chinese patients with CFEOM3. Phenotypic heterogeneity was observed in the patients with CFEOM1. D.A. Spandidos 2016-10 2016-08-11 /pmc/articles/PMC5042766/ /pubmed/27513105 http://dx.doi.org/10.3892/mmr.2016.5624 Text en Copyright: © Chen et al. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Chen, Jingchang
Ye, Qingqing
Deng, Daming
Yan, Jianhua
Lin, Houbian
Shen, Tao
Lin, Ying
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
title KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
title_full KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
title_fullStr KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
title_full_unstemmed KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
title_short KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
title_sort kif21a mutation in two chinese families with congenital fibrosis of the extraocular muscles type 1 and 3
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042766/
https://www.ncbi.nlm.nih.gov/pubmed/27513105
http://dx.doi.org/10.3892/mmr.2016.5624
work_keys_str_mv AT chenjingchang kif21amutationintwochinesefamilieswithcongenitalfibrosisoftheextraocularmusclestype1and3
AT yeqingqing kif21amutationintwochinesefamilieswithcongenitalfibrosisoftheextraocularmusclestype1and3
AT dengdaming kif21amutationintwochinesefamilieswithcongenitalfibrosisoftheextraocularmusclestype1and3
AT yanjianhua kif21amutationintwochinesefamilieswithcongenitalfibrosisoftheextraocularmusclestype1and3
AT linhoubian kif21amutationintwochinesefamilieswithcongenitalfibrosisoftheextraocularmusclestype1and3
AT shentao kif21amutationintwochinesefamilieswithcongenitalfibrosisoftheextraocularmusclestype1and3
AT linying kif21amutationintwochinesefamilieswithcongenitalfibrosisoftheextraocularmusclestype1and3