Document Detail

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
MedLine Citation:
PMID:  16240161     Owner:  NLM     Status:  MEDLINE    
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 identified in individuals with NPHP-associated JBTS. Recently, mutations in AHI1 on chromosome 6q23.3 were found in JBTS patients without NPHP. Here, by direct sequencing, we identify novel truncating mutations within AHI1 in affected patients from two families. One patient had the association of JBTS and NPHP with chronic renal failure. This is the first report of AHI1 mutations causing JBTS associated with NPHP, confirming the clinical and genetic heterogeneity of NPHP.
Boris Utsch; John A Sayer; Massimo Attanasio; Rob Rodrigues Pereira; Michael Eccles; Hans-Christian Hennies; Edgar A Otto; Friedhelm Hildebrandt
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2005-10-21
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  21     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2006-03-21     Completed Date:  2006-09-29     Revised Date:  2008-05-14    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  32-5     Citation Subset:  IM    
Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, USA.
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MeSH Terms
Adaptor Proteins, Signal Transducing / genetics*
Apnea / genetics
Ataxia / genetics
Cerebellum / abnormalities*
DNA Mutational Analysis
Kidney Diseases / genetics*
Mental Retardation / genetics
Muscle Hypotonia / genetics
Ocular Motility Disorders / genetics
Grant Support
R01-DK064614-02/DK/NIDDK NIH HHS; R01-DK068306-0/DK/NIDDK NIH HHS
Reg. No./Substance:
0/AHI1 protein, human; 0/Adaptor Proteins, Signal Transducing

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