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Literature DB >> 6694185

Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.

T Moross, S S Vaithilingam, S Styles, H A Gardner.

Abstract

We describe a family in which autosomal dominant anterior polar cataracts are segregating in four members over three generations with an apparently balanced reciprocal translocation between chromosomes 2 and 14. We conclude that altered function of a gene or genes on chromosomes 2 or 14 are important in the embryological development of the lens.

Entities: Disease Gene

Mesh：

Year: 1984 PMID： 6694185 PMCID： PMC1049206 DOI： 10.1136/jmg.21.1.52

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

2 in total

Review 1. Genetic counseling in sex linkage.

Authors: N E Morton; J M Lalouel
Journal: Birth Defects Orig Artic Ser Date: 1979

2. Genetic studies of congenital cataract.

Authors: M S Mostafa; S Temtamy; M Y El-Gammal; S I Sayed; M Abdel-Salam; R El-Baroudy
Journal: Metab Pediatr Ophthalmol Date: 1981

2 in total

8 in total

1. Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).

Authors: P Francis; V Berry; S Bhattacharya; A Moore
Journal: Br J Ophthalmol Date: 2000-12 Impact factor: 4.638

Review 2. 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

8. Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].

Authors: Emre Zafer; Jeanne Meck; Liora Gerrad; Elon Pras; Moshe Frydman; Orit Reish; Isaac Avni; Eran Pras
Journal: Mol Vis Date: 2008-03-14 Impact factor: 2.367

8 in total

Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.

Review 1. Genetic counseling in sex linkage.

2. Genetic studies of congenital cataract.

1. Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).

Review 2. The genetics of childhood cataract.

Review 3. Current status of human chromosome 14.

4. Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation.

5. Aetiology of congenital and paediatric cataract in an Australian population.

6. Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.

7. Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

8. Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].