Title: Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence
Authors: Marie, S
Cuppens, Harry
Heuterspreute, M
Jaspers, Martine
Tola, EZ
Gu, XX
Legius, Eric
Vincent, MF
Jaeken, Jacques
Cassiman, Jean-Jacques
Van den Berghe, George # ×
Issue Date: 1999
Publisher: Wiley-liss
Series Title: Human Mutation vol:13 issue:3 pages:197-202
Abstract: The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL deficient children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. Up to now nine missense mutations of the ADSL gene had been reported in six apparently unrelated sibships. In the present study of 10 additional patients with ADSL deficiency, nine point mutations, among which seven unreported missense mutations, and the first splicing error reported in this disorder, have been identified. These mutations have been characterized, taking into account the finding that the cDNA of human ADSL is 75 nucleotides longer at its 5'-end, and encodes a protein of 484 rather than 459 amino acids as previously reported, Five apparently unrelated patients were found to carry a R426H mutation. With the exceptions of the latter mutation, of a R190Q mutation that had been reported previously and of a K246E mutation that was found in two unrelated patients, all other mutations were found only in a single family. Hum Mutat 13:197-202, 1999. (C) 1999 Wiley-Liss, Inc.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Section Child - Miscellaneous (-)
Laboratory of Intensive Care Medicine
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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