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Genotype-phenotype ...
Genotype-phenotype correlations in recessive titinopathies.
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Savarese, Marco (author)
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Vihola, Anna (author)
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Oates, Emily C (author)
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show more...
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Barresi, Rita (author)
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Fiorillo, Chiara (author)
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Tasca, Giorgio (author)
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Jokela, Manu (author)
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Sarkozy, Anna (author)
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Luo, Sushan (author)
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Díaz-Manera, Jordi (author)
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- Ehrstedt, Christoffer (author)
- Uppsala universitet,Barnneurologi/Barnonkologi
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Rojas-García, Ricardo (author)
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Sáenz, Amets (author)
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Muelas, Nuria (author)
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Lonardo, Fortunato (author)
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Fodstad, Heidi (author)
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Qureshi, Talha (author)
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Johari, Mridul (author)
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Välipakka, Salla (author)
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Luque, Helena (author)
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Petiot, Philippe (author)
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de Munain, Adolfo López (author)
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Pane, Marika (author)
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Mercuri, Eugenio (author)
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Torella, Annalaura (author)
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Nigro, Vincenzo (author)
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Astrea, Guja (author)
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Santorelli, Filippo Maria (author)
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Bruno, Claudio (author)
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Kuntzer, Thierry (author)
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Illa, Isabel (author)
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Vílchez, Juan J (author)
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Julien, Cedric (author)
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Ferreiro, Ana (author)
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Malandrini, Alessandro (author)
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Zhao, Chong-Bo (author)
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- Casar Borota, Olivera (author)
- Uppsala universitet,Klinisk och experimentell patologi
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Davis, Mark (author)
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Muntoni, Francesco (author)
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Hackman, Peter (author)
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Udd, Bjarne (author)
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(creator_code:org_t)
- Elsevier BV, 2020
- 2020
- English.
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In: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 22:12, s. 2029-2040
- Related links:
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- PURPOSE: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this cohort.METHODS: We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenic TTN variants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families).RESULTS: Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final three TTN exons (362-364).CONCLUSION: Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
Keyword
- arthrogryposis
- cardiomyopathy
- congenital myopathy
- skeletal muscle disorders
- titin
- Patologi
- Pathology
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Savarese, Marco
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Vihola, Anna
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Oates, Emily C
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Barresi, Rita
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Fiorillo, Chiara
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Tasca, Giorgio
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show more...
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Jokela, Manu
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Sarkozy, Anna
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Luo, Sushan
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Díaz-Manera, Jor ...
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Ehrstedt, Christ ...
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Rojas-García, Ri ...
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Sáenz, Amets
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Muelas, Nuria
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Lonardo, Fortuna ...
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Fodstad, Heidi
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Qureshi, Talha
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Johari, Mridul
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Välipakka, Salla
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Luque, Helena
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Petiot, Philippe
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de Munain, Adolf ...
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Pane, Marika
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Mercuri, Eugenio
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Torella, Annalau ...
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Nigro, Vincenzo
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Astrea, Guja
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Santorelli, Fili ...
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Bruno, Claudio
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Kuntzer, Thierry
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Illa, Isabel
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Vílchez, Juan J
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Julien, Cedric
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Ferreiro, Ana
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Malandrini, Ales ...
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Zhao, Chong-Bo
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Casar Borota, Ol ...
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Davis, Mark
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Muntoni, Frances ...
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Hackman, Peter
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Udd, Bjarne
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Clinical Laborat ...
- Articles in the publication
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Genetics in Medi ...
- By the university
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Uppsala University