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Article

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Journal of medical genetics - 1 Apr 2006

Parisi M A, Doherty D, Eckert M L, Shaw D W W, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason O S, Dobyns W B, Bennett C L, Chance P F, Glass I A

Abstract excerpt

BACKGROUND: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with t...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16155189
DOI: 10.1136/jmg.2005.036608
PMCID: PMC2563230

Genes

AHI1
NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16155189-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.PMID 16155189Read ↗

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.Semantic proximity Read ↗

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.Semantic proximity Read ↗

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.Semantic proximity Read ↗

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.Semantic proximity Read ↗

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.Semantic proximity Read ↗

Genotype-phenotype correlates in Joubert syndrome: A review.Semantic proximity Read ↗

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.Semantic proximity Read ↗

Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.Semantic proximity Read ↗

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Genetic basis of Joubert syndrome and related disorders of cerebellar developmentSemantic proximity Read ↗

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