PMID- 22008442
OWN - NLM
STAT- MEDLINE
DCOM- 20111206
LR  - 20191112
IS  - 1349-3299 (Electronic)
IS  - 1349-2365 (Linking)
VI  - 52
IP  - 5
DP  - 2011
TI  - Clinical and genetic investigation of a Japanese family with cardiac fabry 
      disease. Identification of a novel alpha-galactosidase A missense mutation (G195V).
PG  - 308-11
AB  - Fabry disease is an X-linked lysosomal storage disorder caused by mutations of 
      the alpha-galactosidase A gene (GLA), and the disease is a relatively prevalent cause 
      of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. 
      We assessed clinically 5 patients of a three-generation family and also searched 
      for GLA mutations in 10 family members. The proband had left ventricular 
      hypertrophy with localized thinning in the basal posterior wall and late 
      gadolinium enhancement (LGE) in the near-circumferential wall in cardiovascular 
      magnetic resonance images and her sister had vasospastic angina pectoris without 
      organic stenosis of the coronary arteries. LGE notably appeared in parallel with 
      decreased alpha-galactosidase A activity and increased NT-pro BNP in our patients. We 
      detected a new GLA missense mutation (G195V) in exon 4, resulting in a 
      glycine-to-valine substitution. Of the 10 family members, 5 family members each 
      were positive and negative for this mutation. These new data extend our clinical 
      and molecular knowledge of GLA gene mutations and confirm that a novel missense 
      mutation in the GLA gene is important not only for a precise diagnosis of 
      heterozygous status, but also for confirming relatives who are negative for this 
      mutation.
FAU - Nakagawa, Naoki
AU  - Nakagawa N
AD  - Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of 
      Internal Medicine, Asahikawa Medical University, Hokkaido, Japan.
FAU - Maruyama, Hiroki
AU  - Maruyama H
FAU - Ishihara, Takayuki
AU  - Ishihara T
FAU - Seino, Utako
AU  - Seino U
FAU - Kawabe, Jun-ichi
AU  - Kawabe J
FAU - Takahashi, Fumihiko
AU  - Takahashi F
FAU - Kobayashi, Motoi
AU  - Kobayashi M
FAU - Yamauchi, Atsushi
AU  - Yamauchi A
FAU - Sasaki, Yukie
AU  - Sasaki Y
FAU - Sakamoto, Naka
AU  - Sakamoto N
FAU - Ota, Hisanobu
AU  - Ota H
FAU - Tanabe, Yasuko
AU  - Tanabe Y
FAU - Takeuchi, Toshiharu
AU  - Takeuchi T
FAU - Takenaka, Toshihiro
AU  - Takenaka T
FAU - Kikuchi, Kenjiro
AU  - Kikuchi K
FAU - Hasebe, Naoyuki
AU  - Hasebe N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Int Heart J
JT  - International heart journal
JID - 101244240
RN  - 0 (Peptide Fragments)
RN  - 0 (pro-brain natriuretic peptide (1-76))
RN  - 114471-18-0 (Natriuretic Peptide, Brain)
RN  - EC 3.2.1.22 (alpha-Galactosidase)
RN  - HG18B9YRS7 (Valine)
RN  - TE7660XO1C (Glycine)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution/genetics
MH  - Bundle-Branch Block/diagnosis/genetics/pathology
MH  - Coronary Angiography
MH  - Coronary Vasospasm/diagnosis/genetics/pathology
MH  - DNA Mutational Analysis
MH  - Echocardiography
MH  - Electrocardiography
MH  - Exons/genetics
MH  - Fabry Disease/*diagnosis/*genetics/pathology
MH  - Female
MH  - Genotype
MH  - Glycine/genetics
MH  - Humans
MH  - Hypertrophy, Left Ventricular/*diagnosis/*genetics/pathology
MH  - Japan
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Microscopy, Electron
MH  - Middle Aged
MH  - Mutation, Missense/*genetics
MH  - Myocardium/pathology
MH  - Natriuretic Peptide, Brain/blood
MH  - Pedigree
MH  - Peptide Fragments/blood
MH  - Signal Processing, Computer-Assisted
MH  - Valine/genetics
MH  - Young Adult
MH  - alpha-Galactosidase/*genetics
EDAT- 2011/10/20 06:00
MHDA- 2011/12/13 00:00
CRDT- 2011/10/20 06:00
PHST- 2011/10/20 06:00 [entrez]
PHST- 2011/10/20 06:00 [pubmed]
PHST- 2011/12/13 00:00 [medline]
AID - JST.JSTAGE/ihj/52.308 [pii]
AID - 10.1536/ihj.52.308 [doi]
PST - ppublish
SO  - Int Heart J. 2011;52(5):308-11. doi: 10.1536/ihj.52.308.