Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Further genetic heterogeneity for autosomal dominant human sutural cataracts.

Ophthalmic research - 1 Jan 2000

Klopp Norman, Héon Elise, Billingsley Gail, Illig Thomas, Wjst Matthias, Rudolph Günther, Graw Jochen

Abstract excerpt

A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent reason for isolated congenital cataracts, all 4 active CRYG genes have been sequenced. A single base-pair change in the CRYGA gene has been shown, leading to a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to Chromosome Disorders
Share to Crystallins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family Health

Share to Genes, Dominant

Share to Genetic Heterogeneity

Share to Genetic Linkage

Share to Lod Score

Source

Identifiers

PMID: 12646746
DOI: 10.1159/000069134

Genes

CRYGA
GJA8
BFSP2
CRYBA1
CRYBB2
MIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Further genetic heterogeneity for autosomal dominant human sutural cataracts.PMID 12646746Read ↗

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.Semantic proximity Read ↗

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.Semantic proximity Read ↗

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.Semantic proximity Read ↗

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.Semantic proximity Read ↗

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.Semantic proximity Read ↗

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.Semantic proximity Read ↗

Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.Semantic proximity Read ↗

A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.Semantic proximity Read ↗

A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.Semantic proximity Read ↗

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataractSemantic proximity Read ↗

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Semantic proximity Read ↗

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.