Literature DB >> 4470901

Congenital X-linked cataract, dental anomalies and brachymetacarpalia.

W E Nance, M Warburg, D Bixler, E M Helveston.   

Abstract

An investigation of a family with congenital X-linked cataracts, microcorneas, supernumerary incisors, anteverted pinnae and shortened metacarpals is presented. The carriers had posterior sutural opacities and cone-shaped teeth. There have been four previously reported families with X-linked cataracts, one of which also presented microcorneas. Four other families have been reported with X-linked cataracts, microphthalmia and somatic and mental anomalies. Linkage studies could be used to demonstrate whether these diseases result from allelic or nonallelic genes but were uniformative in the present family.

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Mesh:

Year:  1974        PMID: 4470901

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  19 in total

1.  The Nance-Horan syndrome.

Authors:  I R Walpole; A Hockey; A Nicoll
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

2.  Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.

Authors:  D Stambolian; R A Lewis; K Buetow; A Bond; R Nussbaum
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

3.  Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.

Authors:  R A Lewis
Journal:  Trans Am Ophthalmol Soc       Date:  1989

4.  Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

Authors:  Nan Hong; Yan-hua Chen; Chen Xie; Bai-sheng Xu; Hui Huang; Xin Li; Yue-qing Yang; Ying-ping Huang; Jian-lian Deng; Ming Qi; Yang-shun Gu
Journal:  J Zhejiang Univ Sci B       Date:  2014-08       Impact factor: 3.066

5.  1992 American Society of Human Genetics presidential address: back to the future.

Authors:  W E Nance
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

6.  The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.

Authors:  Simon P Brooks; Margherita Coccia; Hao R Tang; Naheed Kanuga; Laura M Machesky; Maryse Bailly; Michael E Cheetham; Alison J Hardcastle
Journal:  Hum Mol Genet       Date:  2010-03-23       Impact factor: 6.150

7.  Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

Authors:  Xiaoyan Ding; Mrinali Patel; Alexandra A Herzlich; Pamela C Sieving; Chi-Chao Chan
Journal:  Ophthalmic Genet       Date:  2009-09       Impact factor: 1.803

8.  Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Authors:  Kathryn P Burdon; James D McKay; Michèle M Sale; Isabelle M Russell-Eggitt; David A Mackey; M Gabriela Wirth; James E Elder; Alan Nicoll; Michael P Clarke; Liesel M FitzGerald; James M Stankovich; Marie A Shaw; Shiwani Sharma; Srecko Gajovic; Peter Gruss; Shelley Ross; Paul Thomas; Anne K Voss; Tim Thomas; Jozef Gécz; Jamie E Craig
Journal:  Am J Hum Genet       Date:  2003-10-16       Impact factor: 11.025

Review 9.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

10.  X-linked cataract and Nance-Horan syndrome are allelic disorders.

Authors:  Margherita Coccia; Simon P Brooks; Tom R Webb; Katja Christodoulou; Izabella O Wozniak; Victoria Murday; Martha Balicki; Harris A Yee; Teresia Wangensteen; Ruth Riise; Anand K Saggar; Soo-Mi Park; Naheed Kanuga; Peter J Francis; Eamonn R Maher; Anthony T Moore; Isabelle M Russell-Eggitt; Alison J Hardcastle
Journal:  Hum Mol Genet       Date:  2009-05-04       Impact factor: 6.150

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