PMID- 10330341
OWN - NLM
STAT- MEDLINE
DCOM- 19990624
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 6
DP  - 1999 Jun
TI  - Complete genomic structure and mutational spectrum of PHKA2 in patients with
      x-linked liver glycogenosis type I and II.
PG  - 1541-9
AB  - X-linked liver glycogenosis (XLG) is probably the most frequent glycogen-storage 
      disease. XLG can be divided into two subtypes: XLG I, with a deficiency in
      phosphorylase kinase (PHK) activity in peripheral blood cells and liver; and XLG 
      II, with normal in vitro PHK activity in peripheral blood cells and with variable
      activity in liver. Both types of XLG are caused by mutations in the same gene,
      PHKA2, that encodes the regulatory alpha subunit of PHK. To facilitate mutation
      analysis in PHKA2, we determined its genomic structure. The gene consists of 33
      exons, spanning >/=65 kb. By SSCP analysis of the different PHKA2 exons, we
      identified five new XLG I mutations, one new XLG II mutation, and one mutation
      present in both a patient with XLG I and a patient with XLG II, bringing the
      total to 19 XLG I and 12 XLG II mutations. Most XLG I mutations probably lead to 
      truncation or disruption of the PHKA2 protein. In contrast, all XLG II mutations 
      are missense mutations or small in-frame deletions and insertions. These results 
      suggest that the biochemical differences between XLG I and XLG II might be due to
      the different nature of the disease-causing mutations in PHKA2. XLG I mutations
      may lead to absence of the alpha subunit, which causes an unstable PHK holoenzyme
      and deficient enzyme activity, whereas XLG II mutations may lead to in vivo
      deregulation of PHK, which might be difficult to demonstrate in vitro.
FAU - Hendrickx, J
AU  - Hendrickx J
AD  - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
      jan.hendrickx@ruca.ua.ac.be
FAU - Lee, P
AU  - Lee P
FAU - Keating, J P
AU  - Keating JP
FAU - Carton, D
AU  - Carton D
FAU - Sardharwalla, I B
AU  - Sardharwalla IB
FAU - Tuchman, M
AU  - Tuchman M
FAU - Baussan, C
AU  - Baussan C
FAU - Willems, P J
AU  - Willems PJ
LA  - eng
SI  - GENBANK/AF044540
SI  - GENBANK/AF044541
SI  - GENBANK/AF044542
SI  - GENBANK/AF044543
SI  - GENBANK/AF044544
SI  - GENBANK/AF044545
SI  - GENBANK/AF044546
SI  - GENBANK/AF044547
SI  - GENBANK/AF044548
SI  - GENBANK/AF044549
SI  - GENBANK/AF044550
SI  - GENBANK/AF044551
SI  - GENBANK/AF044552
SI  - GENBANK/AF044553
SI  - GENBANK/AF044554
SI  - GENBANK/AF044555
SI  - GENBANK/AF044556
SI  - GENBANK/AF044557
SI  - GENBANK/AF044558
SI  - GENBANK/AF044559
SI  - GENBANK/AF044560
SI  - GENBANK/AF044561
SI  - GENBANK/AF044562
SI  - GENBANK/AF044563
SI  - GENBANK/AF044564
SI  - GENBANK/AF044565
SI  - GENBANK/AF044566
SI  - GENBANK/AF044567
SI  - GENBANK/AF044568
SI  - GENBANK/AF044569
SI  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA Primers)
RN  - EC 2.7.1.19 (Phosphorylase Kinase)
SB  - IM
MH  - Base Sequence
MH  - DNA Primers
MH  - Exons
MH  - *Genetic Linkage
MH  - Glycogen Storage Disease Type I/*genetics
MH  - Glycogen Storage Disease Type II/*genetics
MH  - Humans
MH  - Introns
MH  - Liver/pathology
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Phosphorylase Kinase/*genetics
MH  - Polymorphism, Single-Stranded Conformational
MH  - *X Chromosome
PMC - PMC1377897
EDAT- 1999/05/20 06:00
MHDA- 2000/03/21 09:00
CRDT- 1999/05/20 06:00
PHST- 1999/05/20 06:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/05/20 06:00 [entrez]
AID - S0002-9297(07)63656-8 [pii]
AID - 10.1086/302399 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jun;64(6):1541-9. doi: 10.1086/302399.