PMID- 10206684
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20220409
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 5
DP  - 1998
TI  - The identification of five novel mutations in the lysosomal acid a-(1-4)
      glucosidase gene from patients with glycogen storage disease type II. Mutations
      in brief no. 134. Online.
PG  - 413
AB  - The autosomal recessive disorder Glycogen Storage Type II (GSDII) is caused by a 
      deficiency in the lysosomal enzyme acid alpha-glucosidase. We have optimised a
      procedure to use fluorescent DNA sequencing technology to screen for mutations
      within the alpha-glucosidase gene from UK patients with GSDII. Five previously
      unknown mutations in six patients (4 early onset infantile and 2 late adult) have
      been found. The mutations are an insertion of a C residue in exon 2 (InsC258), an
      insertion of a G residue in exon 16 (InsG2242), a deletion of 20 nucleotides in
      exon 4 delta, and a nonsense mutation in exon 16 (G2237A-Trp746Stop). All will
      result in the introduction of a premature stop codon in the coding region,
      predicting a truncated and non-functional protein. The final mutation is a
      duplication of 18 nucleotides in exon 19 (Ins18nt2776) and will result in the
      insertion of an additional six amino acids into the protein chain after Asn925
      (Gly-Val-Pro-Val-Ser-Asn).
FAU - Beesley, C E
AU  - Beesley CE
AD  - Department of Cardiothoracic Surgery, Imperial College School of Medicine at the 
      National Heart & Lung Institute, Heart Science Centre, Harefield Hospital,
      Middlesex, Ub9 GJH, United Kingdom. C.Beesley@ich.ucl.ac.uk
FAU - Child, A H
AU  - Child AH
FAU - Yacoub, M H
AU  - Yacoub MH
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  - EC 3.2.1.20 (alpha-Glucosidases)
RN  - EC 3.2.1.3 (Glucan 1,4-alpha-Glucosidase)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Glucan 1,4-alpha-Glucosidase/*genetics
MH  - Glycogen Storage Disease Type II/*genetics
MH  - Humans
MH  - Infant
MH  - Mutation/*genetics
MH  - United Kingdom
MH  - alpha-Glucosidases
EDAT- 1999/04/17 02:16
MHDA- 2000/06/22 10:00
CRDT- 1999/04/17 02:16
PHST- 1999/04/17 02:16 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/17 02:16 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(5):413. doi:
      10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I.