Literature DB >> 2728866

Autosomal dominant congenital cataract. Morphology and genetic mapping.

E Marner1, T Rosenberg, H Eiberg.   

Abstract

We studied a large Danish pedigree with autosomal dominant congenital cataracts (ADCC) in 9 generations. Morphological characteristics of the cataracts are described and documented by photos. In contrast with several other types of ADCC the cataracts studied were progressive during infancy and childhood. Linkage analysis with 14 marker systems revealed close linkage between this Marner cataract locus (CAM) and the locus of Haptoglobin (HP) on chromosome 16. Genetic heterogeneity in ADCC has now established with the genetic mapping of cataract loci to chromosome 1, chromosome 2, and chromosome 16.

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Year:  1989        PMID： 2728866     DOI： 10.1111/j.1755-3768.1989.tb00745.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN： 0001-639X


  12 in total

Review 1.  Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.

Authors:  Olga Messina-Baas; Sergio A Cuevas-Covarrubias
Journal:  Mol Syndromol       Date:  2017-02-07

2.  A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

Authors:  D Mackay; A Ionides; V Berry; A Moore; S Bhattacharya; A Shiels
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

3.  Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.

Authors:  V Berry; P Francis; M A Reddy; D Collyer; E Vithana; I MacKay; G Dawson; A H Carey; A Moore; S S Bhattacharya; R A Quinlan
Journal:  Am J Hum Genet       Date:  2001-09-27       Impact factor: 11.025

4.  Genetic mapping of a mouse ocular malformation locus, Tcm, to chromosome 4.

Authors:  E Zhou; P Grimes; J Favor; B Koeberlein; W Pretsch; A Neuhauser-Klaus; D Sidjanin; D Stambolian
Journal:  Mamm Genome       Date:  1997-03       Impact factor: 2.957

5.  A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

Authors:  A Shiels; D Mackay; A Ionides; V Berry; A Moore; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

Review 6.  The genetics of childhood cataract.

Authors:  P J Francis; V Berry; S S Bhattacharya; A T Moore
Journal:  J Med Genet       Date:  2000-07       Impact factor: 6.318

7.  Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12.

Authors:  T Padma; R Ayyagari; J S Murty; S Basti; T Fletcher; G N Rao; M Kaiser-Kupfer; J F Hejtmancik
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

8.  Expression of the HSF4 DNA binding domain-EGFP hybrid gene recreates early childhood lamellar cataract in transgenic mice.

Authors:  Rajendra K Gangalum; Zhe Jing; Ankur M Bhat; Josh Lee; Yoshiko Nagaoka; Sophie X Deng; Meisheng Jiang; Suraj P Bhat
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-08-28       Impact factor: 4.799

Review 9.  Molecular genetics of age-related cataract.

Authors:  J Fielding Hejtmancik; Marc Kantorow
Journal:  Exp Eye Res       Date:  2004-07       Impact factor: 3.467

10.  HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice.

Authors:  Zhe Jing; Rajendra K Gangalum; Ankur M Bhat; Yoshiko Nagaoka; Meisheng Jiang; Suraj P Bhat
Journal:  Hum Mutat       Date:  2014-07-23       Impact factor: 4.878
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