Abstract
We have examined for a mutation in the cardiac β myosin heavy chain gene from Japanese patients with familial hypertrophic cardiomyopathy. A missense mutation due to a G to A transition in codon 935, leading to a replacement of Glu with Lys, was found in one patient. Family members of this patient were then examined. It was revealed that both the proband and his elder brother, who was also a symptomatic patient, were homozygous for the mutation. The proband eventually died of intractable heart failure, and his brother died suddenly in their thirties. On the other hand, his parents, who were first cousins and heterozygous for the mutation, had cardiac hypertrophy without clinical symptoms. His elder sister was also heterozygous for the mutation, however, she did not manifest with cardiac hypertrophy. These observations suggest a gene-dose-like effect of the mutant cardiac β myosin heavy chain gene on the clinical manifestation of familial hypertrophic cardiomyopathy.
| Original language | English |
|---|---|
| Pages (from-to) | 549-556 |
| Number of pages | 8 |
| Journal | Biochemical and Biophysical Research Communications |
| Volume | 200 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Apr 15 1994 |
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All Science Journal Classification (ASJC) codes
- Biophysics
- Biochemistry
- Molecular Biology
- Cell Biology
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Possible Gene Effect of a Mutant Cardiac β-Myosin Heavy Chain Gene on the Clinical Expression of Familial Hypertrophic Cardiomyopathy. / Nishi, H.; Kimura, A.; Harada, H.; Adachi, K.; Koga, Y.; Sasazuki, Takehiko; Toshima, H.
In: Biochemical and Biophysical Research Communications, Vol. 200, No. 1, 15.04.1994, p. 549-556.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Possible Gene Effect of a Mutant Cardiac β-Myosin Heavy Chain Gene on the Clinical Expression of Familial Hypertrophic Cardiomyopathy
AU - Nishi, H.
AU - Kimura, A.
AU - Harada, H.
AU - Adachi, K.
AU - Koga, Y.
AU - Sasazuki, Takehiko
AU - Toshima, H.
PY - 1994/4/15
Y1 - 1994/4/15
N2 - We have examined for a mutation in the cardiac β myosin heavy chain gene from Japanese patients with familial hypertrophic cardiomyopathy. A missense mutation due to a G to A transition in codon 935, leading to a replacement of Glu with Lys, was found in one patient. Family members of this patient were then examined. It was revealed that both the proband and his elder brother, who was also a symptomatic patient, were homozygous for the mutation. The proband eventually died of intractable heart failure, and his brother died suddenly in their thirties. On the other hand, his parents, who were first cousins and heterozygous for the mutation, had cardiac hypertrophy without clinical symptoms. His elder sister was also heterozygous for the mutation, however, she did not manifest with cardiac hypertrophy. These observations suggest a gene-dose-like effect of the mutant cardiac β myosin heavy chain gene on the clinical manifestation of familial hypertrophic cardiomyopathy.
AB - We have examined for a mutation in the cardiac β myosin heavy chain gene from Japanese patients with familial hypertrophic cardiomyopathy. A missense mutation due to a G to A transition in codon 935, leading to a replacement of Glu with Lys, was found in one patient. Family members of this patient were then examined. It was revealed that both the proband and his elder brother, who was also a symptomatic patient, were homozygous for the mutation. The proband eventually died of intractable heart failure, and his brother died suddenly in their thirties. On the other hand, his parents, who were first cousins and heterozygous for the mutation, had cardiac hypertrophy without clinical symptoms. His elder sister was also heterozygous for the mutation, however, she did not manifest with cardiac hypertrophy. These observations suggest a gene-dose-like effect of the mutant cardiac β myosin heavy chain gene on the clinical manifestation of familial hypertrophic cardiomyopathy.
UR - http://www.scopus.com/inward/record.url?scp=0028332683&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028332683&partnerID=8YFLogxK
U2 - 10.1006/bbrc.1994.1483
DO - 10.1006/bbrc.1994.1483
M3 - Article
C2 - 7909436
AN - SCOPUS:0028332683
VL - 200
SP - 549
EP - 556
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 1
ER -