OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

doi:10.1016/j.ajhg.2009.09.002

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

Back to search

Article

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

American journal of human genetics - 1 Oct 2009

Coene Karlien L M, Roepman Ronald, Doherty Dan, Afroze Bushra, Kroes Hester Y, Letteboer Stef J F, Ngu Lock H, Budny Bartlomiej, van Wijk Erwin, Gorden Nicholas T, Azhimi Malika, Thauvin-Robinet Christel, Veltman Joris A, Boink Mireille, Kleefstra Tjitske, Cremers Frans P M, van Bokhoven Hans, de Brouwer Arjan P M

Abstract excerpt

We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier females suggested an X-linked recessive inheritance pattern. Affected males presented with mental retardation accompanied by postaxial polydactyly and retinitis pigmentosa....

Topics

Animals
Eye Proteins
Family Health
Female
Genetic Linkage
Humans
Lod Score
Male
Microtubule-Associated Proteins
Mutation
Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Rats

Rats, Wistar

Sex Factors

Syndrome

Two-Hybrid System Techniques

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 19800048
DOI: 10.1016/j.ajhg.2009.09.002
PMCID: PMC2756557

Genes

LCA5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-19800048-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.