Utsch, B., Sayer, J.A., Attanasio, M., Pereira, R.R., Eccles, M., Hennies, Hans C., Otto, E.A. and Hildebrandt, F. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatric Nephrology, 21 (1). pp. 32-35. ISSN 0931-041XMetadata only available from this repository.
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.
|Additional Information:||Unmapped bibliographic data: ST - Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome [Field not mapped to EPrints] LB - 25 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]|
|Subjects:||Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
|Schools:||School of Applied Sciences|
|Depositing User:||Hans Hennies|
|Date Deposited:||06 Jul 2016 12:33|
|Last Modified:||29 Jul 2016 14:06|
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