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Lethal multiple pte...
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum
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- Kariminejad, A. (författare)
- Najmabadi Pathology & Genetics Center, Tehran, Iran
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- Ghaderi-Sohi, S. (författare)
- Najmabadi Pathology & Genetics Center, Tehran, Iran
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- Nedai, H. H. N. (författare)
- Department of Pathology, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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- Varasteh, V. (författare)
- Division of Thoracic Surgery, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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- Moslemi, Ali-Reza (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Tajsharghi, Homa, 1968 (författare)
- Högskolan i Skövde,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Medical and Clinical Genetics,Institute of Biomedicine, Department of Pathology,Institutionen för biovetenskap,Forskningscentrum för Systembiologi,Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden / Department of Clinical and Medical Genetics, University of Gothenburg, Gothenburg, Sweden,Biomedicinsk genetik, Biomedical Genetics
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(creator_code:org_t)
- 2016-03-01
- 2016
- Engelska.
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Ingår i: Bmc Musculoskeletal Disorders. - : Springer Science and Business Media LLC. - 1471-2474. ; 17
- Relaterad länk:
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https://bmcmusculosk...
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https://doi.org/10.1...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Lethal multiple pterygium syndrome
- Akinesia
- Arthrogryposis
- Foetal hydrops
- Cystic hygroma
- akinesia deformation sequence
- fetal akinesia
- malignant hyperthermia
- ryanodine receptor
- mutations
- disorders
- variants
- dominant
- Lethal multiple pterygium syndrome
- Biomedical Genetics
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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