Ontology highlight
ABSTRACT:
SUBMITTER: Rump P
PROVIDER: S-EPMC2105745 | biostudies-literature | 2005 Dec
REPOSITORIES: biostudies-literature
Rump P P Lemmink H H HH Verschuuren-Bemelmans C C CC Grootscholten P M PM Fock J M JM Hayflick S J SJ Westaway S K SK Vos Y J YJ van Essen A J AJ
Neurogenetics 20051021 4
Mutation analysis was performed in four apparently unrelated Dutch families with pantothenate kinase-associated neurodegeneration, formerly known as Hallervorden-Spatz syndrome. A novel 3-bp deletion encompassing the nucleotides GAG at positions 1,142 to 1,144 of exon 5 of the PANK2 gene was found in all patients. One patient was compound heterozygous; she also carried a novel nonsense mutation (Ser68Stop). The other patients were homozygous for the 1142_1144delGAG mutation. The 1142_1144delGAG ...[more]