title: Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.
abstract: Joubert syndrome type B (JSB) is a developmental disorder of the nephronophthisis (NPH) complex with multiple organ involvement, including NPH, coloboma of the eye, aplasia of the cerebellar vermis, and the facultative symptoms of psychomotor retardation, polydactyly, and neonatal tachypnea. In isolated autosomal recessive NPH type 1 (NPH1), homozygous deletions have been described as causative in more than 80% of patients. Since different combinations of the extrarenal symptoms with NPH occur in JSB, a contiguous gene deletion syndrome in the NPH1 genetic region would seem a highly likely cause for JSB. We therefore examined 11 families with JSB for the presence of extended deletions at the NPH1 locus. Genomic DNA was examined using four consecutive polymerase chain reaction (PCR) markers that are deleted in NPH1 and three PCR makers flanking the NPH1 deletion. In all seven markers examined, there was no homozygous deletion detected in any of the 11 JSB families studied. Since these markers saturate the NPH1 deletion region at high density, this finding excludes the presence of large homozygous deletions of the NPH1 region in these JSB families, making it unlikely that deletions of the NPH1 region are a primary cause for JSB.
authors.affiliation: University Children's Hospital, Freiburg University, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Hildebrandt
authors.forename: H G
authors.initials: HG
authors.lastname: Nothwang
authors.forename: U
authors.initials: U
authors.lastname: Vossmerbäumer
authors.forename: C
authors.initials: C
authors.lastname: Springer
authors.forename: B
authors.initials: B
authors.lastname: Strahm
authors.forename: B
authors.initials: B
authors.lastname: Hoppe
authors.forename: B
authors.initials: B
authors.lastname: Keuth
authors.forename: A
authors.initials: A
authors.lastname: Fuchshuber
authors.forename: U
authors.initials: U
authors.lastname: Querfeld
authors.forename: T J
authors.initials: TJ
authors.lastname: Neuhaus
authors.forename: M
authors.initials: M
authors.lastname: Brandis
mesh_terms: D002526:Cerebellar Diseases / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D004247:DNA / Q000032:analysis; D017353:Gene Deletion; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D016133:Polymerase Chain Reaction; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D004247:DNA