A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

P. Carbonell-Corvillo, E. Tristán-Clavijo, M. Cabrera-Serrano, E. Servián-Morilla, G. García-Martín, L. Villarreal-Pérez, E. Rivas-Infante, E. Area-Gómez, M. I. Chamorro-Muñoz, A. Gil-Gálvez, A. Miranda-Vizuete, A. Martinez-Mir, N. Laing, C. Paradas

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Abstract

MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families by physical examination, serum creatine-kinase, muscle MRI, sequencing studies and genetic linkage analysis. Sixteen individuals were heterozygous for a (p.R1560P) variant in the MYH7 gene. Haplotype was consistent with a common ancestor for the two families. The patients displayed the classic Laing distal myopathy phenotype, with hanging first toe as the initial presentation, even in mildly affected patients who declared themselves asymptomatic, although neck flexor weakness was revealed as an early sign in some cases. MRI showed that the sartorius was the first muscle involved, even in two out of three asymptomatic carriers. Our findings support the novel variant p.R1560P in MYH7 as a founder mutation in Andalucía. The early involvement of the sartorius muscle in MRI may be useful as an indicator of affection status.

Original languageEnglish
Pages (from-to)828-836
Number of pages9
JournalNeuromuscular Disorders
Volume28
Issue number10
DOIs
Publication statusPublished - 1 Oct 2018

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Distal Myopathies
Spain
Mutation
MM Form Creatine Kinase
Muscles
Genetic Linkage
Genetic Heterogeneity
Toes
Haplotypes
Genes
Physical Examination
Neck
Phenotype
Serum

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Carbonell-Corvillo, P., Tristán-Clavijo, E., Cabrera-Serrano, M., Servián-Morilla, E., García-Martín, G., Villarreal-Pérez, L., ... Paradas, C. (2018). A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. Neuromuscular Disorders, 28(10), 828-836. https://doi.org/10.1016/j.nmd.2018.07.006
Carbonell-Corvillo, P. ; Tristán-Clavijo, E. ; Cabrera-Serrano, M. ; Servián-Morilla, E. ; García-Martín, G. ; Villarreal-Pérez, L. ; Rivas-Infante, E. ; Area-Gómez, E. ; Chamorro-Muñoz, M. I. ; Gil-Gálvez, A. ; Miranda-Vizuete, A. ; Martinez-Mir, A. ; Laing, N. ; Paradas, C. / A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. In: Neuromuscular Disorders. 2018 ; Vol. 28, No. 10. pp. 828-836.
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abstract = "MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andaluc{\'i}a). We studied two index patients and 24 family members from two apparently independent families by physical examination, serum creatine-kinase, muscle MRI, sequencing studies and genetic linkage analysis. Sixteen individuals were heterozygous for a (p.R1560P) variant in the MYH7 gene. Haplotype was consistent with a common ancestor for the two families. The patients displayed the classic Laing distal myopathy phenotype, with hanging first toe as the initial presentation, even in mildly affected patients who declared themselves asymptomatic, although neck flexor weakness was revealed as an early sign in some cases. MRI showed that the sartorius was the first muscle involved, even in two out of three asymptomatic carriers. Our findings support the novel variant p.R1560P in MYH7 as a founder mutation in Andaluc{\'i}a. The early involvement of the sartorius muscle in MRI may be useful as an indicator of affection status.",
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Carbonell-Corvillo, P, Tristán-Clavijo, E, Cabrera-Serrano, M, Servián-Morilla, E, García-Martín, G, Villarreal-Pérez, L, Rivas-Infante, E, Area-Gómez, E, Chamorro-Muñoz, MI, Gil-Gálvez, A, Miranda-Vizuete, A, Martinez-Mir, A, Laing, N & Paradas, C 2018, 'A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain' Neuromuscular Disorders, vol. 28, no. 10, pp. 828-836. https://doi.org/10.1016/j.nmd.2018.07.006

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. / Carbonell-Corvillo, P.; Tristán-Clavijo, E.; Cabrera-Serrano, M.; Servián-Morilla, E.; García-Martín, G.; Villarreal-Pérez, L.; Rivas-Infante, E.; Area-Gómez, E.; Chamorro-Muñoz, M. I.; Gil-Gálvez, A.; Miranda-Vizuete, A.; Martinez-Mir, A.; Laing, N.; Paradas, C.

In: Neuromuscular Disorders, Vol. 28, No. 10, 01.10.2018, p. 828-836.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

AU - Carbonell-Corvillo, P.

AU - Tristán-Clavijo, E.

AU - Cabrera-Serrano, M.

AU - Servián-Morilla, E.

AU - García-Martín, G.

AU - Villarreal-Pérez, L.

AU - Rivas-Infante, E.

AU - Area-Gómez, E.

AU - Chamorro-Muñoz, M. I.

AU - Gil-Gálvez, A.

AU - Miranda-Vizuete, A.

AU - Martinez-Mir, A.

AU - Laing, N.

AU - Paradas, C.

PY - 2018/10/1

Y1 - 2018/10/1

N2 - MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families by physical examination, serum creatine-kinase, muscle MRI, sequencing studies and genetic linkage analysis. Sixteen individuals were heterozygous for a (p.R1560P) variant in the MYH7 gene. Haplotype was consistent with a common ancestor for the two families. The patients displayed the classic Laing distal myopathy phenotype, with hanging first toe as the initial presentation, even in mildly affected patients who declared themselves asymptomatic, although neck flexor weakness was revealed as an early sign in some cases. MRI showed that the sartorius was the first muscle involved, even in two out of three asymptomatic carriers. Our findings support the novel variant p.R1560P in MYH7 as a founder mutation in Andalucía. The early involvement of the sartorius muscle in MRI may be useful as an indicator of affection status.

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KW - Founder mutation

KW - Genetic linkage analysis

KW - Muscle MRI

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Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L et al. A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. Neuromuscular Disorders. 2018 Oct 1;28(10):828-836. https://doi.org/10.1016/j.nmd.2018.07.006