PMID- 10090474
OWN - NLM
STAT- MEDLINE
DCOM- 19990713
LR  - 20111117
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 3
DP  - 1999
TI  - Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in 
      the re-evaluated full ADSL coding sequence.
PG  - 197-202
AB  - 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.
FAU - Marie, S
AU  - Marie S
AD  - Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular
      Pathology, and University of Louvain Medical School, Belgium.
FAU - Cuppens, H
AU  - Cuppens H
FAU - Heuterspreute, M
AU  - Heuterspreute M
FAU - Jaspers, M
AU  - Jaspers M
FAU - Tola, E Z
AU  - Tola EZ
FAU - Gu, X X
AU  - Gu XX
FAU - Legius, E
AU  - Legius E
FAU - Vincent, M F
AU  - Vincent MF
FAU - Jaeken, J
AU  - Jaeken J
FAU - Cassiman, J J
AU  - Cassiman JJ
FAU - Van den Berghe, G
AU  - Van den Berghe G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Primers)
RN  - EC 4.3.2.2 (Adenylosuccinate Lyase)
SB  - IM
MH  - Adenylosuccinate Lyase/*deficiency/*genetics
MH  - Child
MH  - DNA Mutational Analysis
MH  - DNA Primers
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - *Mutation
MH  - Mutation, Missense
MH  - Point Mutation
MH  - RNA Splicing
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 1999/03/25 03:02
MHDA- 2000/06/22 10:00
CRDT- 1999/03/25 03:02
PHST- 1999/03/25 03:02 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/03/25 03:02 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(3):197-202. doi:
      10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D.