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Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum
Najmabadi Pathology & Genetics Center, Tehran, Iran.
Najmabadi Pathology & Genetics Center, Tehran, Iran.
Department of Pathology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Division of Thoracic Surgery, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
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2016 (engelsk)Inngår i: BMC Musculoskeletal Disorders, ISSN 1471-2474, E-ISSN 1471-2474, Vol. 17, nr 1, s. 1-5, artikkel-id 109Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

BACKGROUND: Lethal multiple pterygium syndrome (LMPS, OMIM 253290), is a fatal disorder associated with anomalies of the skin, muscles and skeleton. It is characterised by prenatal growth failure with pterygium present in multiple areas and akinesia, leading to muscle weakness and severe arthrogryposis. Foetal hydrops with cystic hygroma develops in affected foetuses with LMPS. This study aimed to uncover the aetiology of LMPS in a family with two affected foetuses.

METHODS AND RESULTS: Whole exome sequencing studies have identified novel compound heterozygous mutations in RYR1 in two affected foetuses with pterygium, severe arthrogryposis and foetal hydrops with cystic hygroma, characteristic features compatible with LMPS. The result was confirmed by Sanger sequencing and restriction fragment length polymorphism analysis.

CONCLUSIONS: RYR1 encodes the skeletal muscle isoform ryanodine receptor 1, an intracellular calcium channel with a central role in muscle contraction. Mutations in RYR1 have been associated with congenital myopathies, which form a continuous spectrum of pathological features including a severe variant with onset in utero with fetal akinesia and arthrogryposis. Here, the results indicate that LMPS can be considered as the extreme end of the RYR1-related neonatal myopathy spectrum. This further supports the concept that LMPS is a severe disorder associated with defects in the process known as excitation-contraction coupling.

sted, utgiver, år, opplag, sider
BioMed Central, 2016. Vol. 17, nr 1, s. 1-5, artikkel-id 109
Emneord [en]
Lethal multiple pterygium syndrome, Akinesia, Arthrogryposis, Foetal hydrops, Cystic hygroma, Ryanodine receptor 1, RYR1
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Identifikatorer
URN: urn:nbn:se:his:diva-12050DOI: 10.1186/s12891-016-0947-5ISI: 000371387600001PubMedID: 26932181Scopus ID: 2-s2.0-84959363680OAI: oai:DiVA.org:his-12050DiVA, id: diva2:912951
Tilgjengelig fra: 2016-03-18 Laget: 2016-03-18 Sist oppdatert: 2018-01-10bibliografisk kontrollert

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