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Article

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Jan 2006

Utsch Boris, Sayer John A, Attanasio Massimo, Pereira Rob Rodrigues, Eccles Michael, Hennies Hans-Christian, Otto Edgar A, Hildebrandt Friedhelm

Abstract excerpt

Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal eye movements. Some individuals have progressive renal failure characterized by nephronophthisis (NPHP) and/or retinal dystrophy. Homozygous deletions of NPHP1 on chromosome 2q13 have been...

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Source

Identifiers

PMID: 16240161
DOI: 10.1007/s00467-005-2054-y

Genes

AHI1
NPHP1

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→

Click a neighbor to travelStep 1 · 12 closest

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.PMID 16240161Read ↗

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

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

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

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.Semantic proximity Read ↗

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.Semantic proximity Read ↗

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisSemantic proximity Read ↗

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

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.Semantic proximity Read ↗

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.Semantic proximity Read ↗

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

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