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PMID: 9467006 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

Human molecular genetics ·Vol. 7 ·No. 3 ·1998-03-00 ·Pages 471-4

Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG

Abstract

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.

MeSH Terms

Amino Acid Sequence Animals Cataract/congenital,genetics Chromosome Mapping Chromosomes, Human, Pair 21 Crystallins/genetics Exons Female Genes, Dominant Genetic Linkage Genetic Markers Humans Introns Lod Score Male Microsatellite Repeats Molecular Sequence Data Pedigree Point Mutation Sequence Alignment Sequence Homology, Amino Acid

Chemicals

Crystallins Genetic Markers

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Litt M

Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA. [email protected]

Kramer P

LaMorticella D M

Murphey W

Lovrien E W

Weleber R G

Article Info

Journal

Human molecular genetics

Abbr.

Hum Mol Genet

ISSN

0964-6906

DOI

10.1093/hmg/7.3.471

[email protected]

Published

1998-03-00

Pages

471-4

Language

English

Region

England

NLM ID

9208958

Subset

Grants

NEI NIH HHS · 1RO1-EY11710 · United States

Databases

GENBANK

AF026952

External Links

PubMed source DOI: 10.1093/hmg/7.3.471 View journal details

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Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

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