Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Adele D'Amico; Claudio Graziano; Giuseppe Pacileo; Stefania Petrini; Kristen J. Nowak; Renata Boldrini; Adam Jacques; Juan Juan Feng; Berardino Porfirio; Caroline A. Sewry; Filippo M. Santorelli; Giuseppe Limongelli; Enrico Bertini; Nigel Laing; Steven B. Marston

doi:10.1016/j.nmd.2006.07.005

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Adele D'Amico, Claudio Graziano, Giuseppe Pacileo, Stefania Petrini, Kristen J. Nowak, Renata Boldrini, Adam Jacques, Juan Juan Feng, Berardino Porfirio, Caroline A. Sewry, Filippo M. Santorelli, Giuseppe Limongelli, Enrico Bertini, Nigel Laing, Steven B. Marston

Research output: Contribution to journal › Article › peer-review

Abstract

We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a "de novo" missense heterozygous mutation a > g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13 ± 3% less than normal and the affinity of actin for the Z-line protein α-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.

Original language	English
Pages (from-to)	548-552
Number of pages	5
Journal	Neuromuscular Disorders
Volume	16
Issue number	9-10
DOIs	https://doi.org/10.1016/j.nmd.2006.07.005
Publication status	Published - Oct 2006

Keywords

ACTA1
Hypertrophic cardiomyopathy
Mutation
Nemaline myopathy

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

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10.1016/j.nmd.2006.07.005

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D'Amico, A., Graziano, C., Pacileo, G., Petrini, S., Nowak, K. J., Boldrini, R., Jacques, A., Feng, J. J., Porfirio, B., Sewry, C. A., Santorelli, F. M., Limongelli, G., Bertini, E., Laing, N., & Marston, S. B. (2006). Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromuscular Disorders, 16(9-10), 548-552. https://doi.org/10.1016/j.nmd.2006.07.005

D'Amico, A, Graziano, C, Pacileo, G, Petrini, S, Nowak, KJ, Boldrini, R, Jacques, A, Feng, JJ, Porfirio, B, Sewry, CA, Santorelli, FM, Limongelli, G, Bertini, E, Laing, N & Marston, SB 2006, 'Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation', Neuromuscular Disorders, vol. 16, no. 9-10, pp. 548-552. https://doi.org/10.1016/j.nmd.2006.07.005

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title = "Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation",

abstract = "We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a {"}de novo{"} missense heterozygous mutation a > g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13 ± 3% less than normal and the affinity of actin for the Z-line protein α-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.",

keywords = "ACTA1, Hypertrophic cardiomyopathy, Mutation, Nemaline myopathy",

author = "Adele D'Amico and Claudio Graziano and Giuseppe Pacileo and Stefania Petrini and Nowak, {Kristen J.} and Renata Boldrini and Adam Jacques and Feng, {Juan Juan} and Berardino Porfirio and Sewry, {Caroline A.} and Santorelli, {Filippo M.} and Giuseppe Limongelli and Enrico Bertini and Nigel Laing and Marston, {Steven B.}",

year = "2006",

month = oct,

doi = "10.1016/j.nmd.2006.07.005",

language = "English",

volume = "16",

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journal = "Neuromuscular Disorders",

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T1 - Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

AU - D'Amico, Adele

AU - Graziano, Claudio

AU - Pacileo, Giuseppe

AU - Petrini, Stefania

AU - Nowak, Kristen J.

AU - Boldrini, Renata

AU - Jacques, Adam

AU - Feng, Juan Juan

AU - Porfirio, Berardino

AU - Sewry, Caroline A.

AU - Santorelli, Filippo M.

AU - Limongelli, Giuseppe

AU - Bertini, Enrico

AU - Laing, Nigel

AU - Marston, Steven B.

PY - 2006/10

Y1 - 2006/10

N2 - We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a "de novo" missense heterozygous mutation a > g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13 ± 3% less than normal and the affinity of actin for the Z-line protein α-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.

AB - We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a "de novo" missense heterozygous mutation a > g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13 ± 3% less than normal and the affinity of actin for the Z-line protein α-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.

KW - ACTA1

KW - Hypertrophic cardiomyopathy

KW - Mutation

KW - Nemaline myopathy

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JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 9-10

ER -

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

Abstract

Keywords

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