Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome |
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| Authors: | Boris Utsch John A. Sayer Massimo Attanasio Rob Rodrigues Pereira Michael Eccles Hans-Christian Hennies Edgar A. Otto Friedhelm Hildebrandt |
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| Affiliation: | (1) Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI, USA;(2) Department of Pediatrics, University Erlangen-Nuremberg, Erlangen, Germany;(3) Medical Center Rijnmond South, Department of Pediatrics, Rotterdam, The Netherlands;(4) Developmental Genetics Laboratory, Pathology Department, University of Otago, Otago, New Zealand;(5) Gene Mapping Center, University of Cologne, Cologne, Germany;(6) University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-0646, USA |
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| Abstract: | 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 and John A. Sayer contributed equally to this work |
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| Keywords: | Joubert syndrome Renal failure Nephronophthisis AHI1 Mutational analysis |
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