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Article

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

American journal of human genetics - 1 Jul 2005

Li Shouling, Tiab Leila, Jiao Xiaodong, Munier Francis L, Zografos Leonidas, Frueh Béatrice E, Sergeev Yuri, Smith Janine, Rubin Benjamin, Meallet Mario A, Forster Richard K, Hejtmancik J Fielding, Schorderet Daniel F

Abstract excerpt

François-Neetens fleck corneal dystrophy (CFD) is a rare, autosomal dominant corneal dystrophy characterized by numerous small white flecks scattered in all layers of the stroma. Linkage analysis localized CFD to a 24-cM (18-Mb) interval of chromosome 2q35 flanked by D2S2289 and D2S126 and containing PIP5K3. PIP5K3 is a member of the phosphoinositide 3-kinase family and regulates the sorting and traffic of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

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Identifiers

PMID: 15902656
DOI: 10.1086/431346
PMCID: PMC1226194

Genes

CFD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.PMID 15902656Read ↗

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Mutations in <i>PIKFYVE</i> cause autosomal dominant congenital cataractSemantic proximity Read ↗

Disruption of PIKFYVE causes congenital cataract in human and zebrafish.Semantic proximity Read ↗

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Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.Semantic proximity Read ↗

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.Semantic proximity Read ↗

Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.Semantic proximity Read ↗

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