Stormorken syndrome caused by a p.R304W STIM1 mutation: The first Italian patient and a review of the literature

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3 Citations (Scopus)

Abstract

Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mild intellectual disability (dyslexia). Stormorken syndrome is caused by autosomal dominant mutations in the STIM1 gene, which encodes an endoplasmic reticulum Ca2+ sensor. Here, we describe the clinical and molecular aspects of a 21-year-old Italian female with Stormorken syndrome. The STIM1 gene sequence identified a c.910C T transition in a STIM1 allele (p.R304W). The p.R304W mutation is a common mutation that is responsible for Stormorken syndrome and is hypothesized to cause a gain of function action associated with a rise in Ca2+ levels. A review of published STIM1 mutations (n = 50) and reported Stormorken patients (n = 11) indicated a genotype-phenotype correlation with mutations in a coiled coil cytoplasmic domain associated with complete Stormorken syndrome, and other pathological variants outside this region were more often linked to an incomplete phenotype. Our study describes the first Italian patient with Stormorken syndrome, contributes to the genotype/phenotype correlation and highlights the possibility of directly investigating the p.R304W mutation in the presence of a typical phenotype.

Original languageEnglish
Article number00859
JournalFrontiers in Neurology
Volume9
Issue numberOCT
DOIs
Publication statusPublished - Oct 15 2018

Fingerprint

Mutation
Genetic Association Studies
Phenotype
Congenital Structural Myopathies
Miosis
Dyslexia
Hypocalcemia
Disease Susceptibility
Intellectual Disability
Endoplasmic Reticulum
Genes
Stormorken Syndrome
Alleles
Hemorrhage

Keywords

  • Muscle
  • Myopathy
  • STIM1
  • Stormorken syndrome
  • Tubular aggregate myopathy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

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title = "Stormorken syndrome caused by a p.R304W STIM1 mutation: The first Italian patient and a review of the literature",
abstract = "Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mild intellectual disability (dyslexia). Stormorken syndrome is caused by autosomal dominant mutations in the STIM1 gene, which encodes an endoplasmic reticulum Ca2+ sensor. Here, we describe the clinical and molecular aspects of a 21-year-old Italian female with Stormorken syndrome. The STIM1 gene sequence identified a c.910C T transition in a STIM1 allele (p.R304W). The p.R304W mutation is a common mutation that is responsible for Stormorken syndrome and is hypothesized to cause a gain of function action associated with a rise in Ca2+ levels. A review of published STIM1 mutations (n = 50) and reported Stormorken patients (n = 11) indicated a genotype-phenotype correlation with mutations in a coiled coil cytoplasmic domain associated with complete Stormorken syndrome, and other pathological variants outside this region were more often linked to an incomplete phenotype. Our study describes the first Italian patient with Stormorken syndrome, contributes to the genotype/phenotype correlation and highlights the possibility of directly investigating the p.R304W mutation in the presence of a typical phenotype.",
keywords = "Muscle, Myopathy, STIM1, Stormorken syndrome, Tubular aggregate myopathy",
author = "Oscar Borsani and Daniela Piga and Stefania Costa and Alessandra Govoni and Francesca Magri and Andrea Artoni and Cinnante, {Claudia M.} and Gigliola Fagiolari and Patrizia Ciscato and Maurizio Moggio and Nereo Bresolin and Comi, {Giacomo P.} and Stefania Corti",
year = "2018",
month = "10",
day = "15",
doi = "10.3389/fneur.2018.00859",
language = "English",
volume = "9",
journal = "Frontiers in Neurology",
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T1 - Stormorken syndrome caused by a p.R304W STIM1 mutation

T2 - The first Italian patient and a review of the literature

AU - Borsani, Oscar

AU - Piga, Daniela

AU - Costa, Stefania

AU - Govoni, Alessandra

AU - Magri, Francesca

AU - Artoni, Andrea

AU - Cinnante, Claudia M.

AU - Fagiolari, Gigliola

AU - Ciscato, Patrizia

AU - Moggio, Maurizio

AU - Bresolin, Nereo

AU - Comi, Giacomo P.

AU - Corti, Stefania

PY - 2018/10/15

Y1 - 2018/10/15

N2 - Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mild intellectual disability (dyslexia). Stormorken syndrome is caused by autosomal dominant mutations in the STIM1 gene, which encodes an endoplasmic reticulum Ca2+ sensor. Here, we describe the clinical and molecular aspects of a 21-year-old Italian female with Stormorken syndrome. The STIM1 gene sequence identified a c.910C T transition in a STIM1 allele (p.R304W). The p.R304W mutation is a common mutation that is responsible for Stormorken syndrome and is hypothesized to cause a gain of function action associated with a rise in Ca2+ levels. A review of published STIM1 mutations (n = 50) and reported Stormorken patients (n = 11) indicated a genotype-phenotype correlation with mutations in a coiled coil cytoplasmic domain associated with complete Stormorken syndrome, and other pathological variants outside this region were more often linked to an incomplete phenotype. Our study describes the first Italian patient with Stormorken syndrome, contributes to the genotype/phenotype correlation and highlights the possibility of directly investigating the p.R304W mutation in the presence of a typical phenotype.

AB - Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mild intellectual disability (dyslexia). Stormorken syndrome is caused by autosomal dominant mutations in the STIM1 gene, which encodes an endoplasmic reticulum Ca2+ sensor. Here, we describe the clinical and molecular aspects of a 21-year-old Italian female with Stormorken syndrome. The STIM1 gene sequence identified a c.910C T transition in a STIM1 allele (p.R304W). The p.R304W mutation is a common mutation that is responsible for Stormorken syndrome and is hypothesized to cause a gain of function action associated with a rise in Ca2+ levels. A review of published STIM1 mutations (n = 50) and reported Stormorken patients (n = 11) indicated a genotype-phenotype correlation with mutations in a coiled coil cytoplasmic domain associated with complete Stormorken syndrome, and other pathological variants outside this region were more often linked to an incomplete phenotype. Our study describes the first Italian patient with Stormorken syndrome, contributes to the genotype/phenotype correlation and highlights the possibility of directly investigating the p.R304W mutation in the presence of a typical phenotype.

KW - Muscle

KW - Myopathy

KW - STIM1

KW - Stormorken syndrome

KW - Tubular aggregate myopathy

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