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Case report :
Case report : a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
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- Ghaderi Berntsson, Shala, 1964- (författare)
- Uppsala universitet,Neurologi,Uppsala Univ, Sweden
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- Matsson, Hans, PhD, 1973- (författare)
- Uppsala universitet,Genomik och neurobiologi,Uppsala Univ Hosp, Rudbeck Lab, Clin Genet, Uppsala, Sweden
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- Kristoffersson, Anna (författare)
- Uppsala universitet,Neurologi,Uppsala Univ, Sweden
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- Niemelä, Valter (författare)
- Uppsala universitet,Neurologi,Uppsala Univ, Sweden
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- van Duyvenvoorde, Hermine A. (författare)
- Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.
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- Richel-van Assenbergh, Cindy (författare)
- Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.
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- van der Klift, Heleen M. (författare)
- Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.
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- Casar-Borota, Olivera (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Uppsala Univ Hosp, Dept Clin Pathol, Uppsala, Sweden
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- Frykholm, Carina (författare)
- Uppsala universitet,Genomik och neurobiologi,Uppsala Univ Hosp, Rudbeck Lab, Clin Genet, Uppsala, Sweden
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- Landtblom, Anne-Marie (författare)
- Linköpings universitet,Uppsala universitet,Neurologi,Linköping Univ, Fac Med & Hlth Sci, Dept Biomed & Clin Sci, Linköping, Sweden,Avdelningen för neurobiologi,Medicinska fakulteten,Uppsala Univ, Sweden
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(creator_code:org_t)
- Frontiers Media S.A. 2023
- 2023
- Engelska.
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Ingår i: Frontiers in Genetics. - : Frontiers Media S.A.. - 1664-8021. ; 14
- Relaterad länk:
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https://doi.org/10.3...
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https://uu.diva-port... (primary) (Raw object)
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https://liu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.3...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376) after the onset of muscle weakness in his teens progressively led to significant walking difficulties in his twenties. A genetic diagnosis was pursued but initial investigation revealed no aberrations in the dystrophin gene (DMD), although immunohistochemistry and Western blot analysis suggested the diagnosis of dystrophinopathy. Eventually, after more than 10 years, an RNA analysis captured abnormal splicing where 154 nucleotides from intron 43 were inserted between exon 43 and 44 resulting in a frameshift and a premature stop codon. Normal splicing of the DMD gene was also observed. Additionally, a novel variant c.6291–13537A>G in DMD was confirmed in the genomic DNA of the patient. The predicted function of the variant aligns with the mRNA results. To conclude, we here demonstrate that mRNA analysis can guide the diagnosis of non-coding genetic variants in DMD.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Nyckelord
- Becker muscular dystrophy
- genetics
- MLPA
- mRNA
- RNA sequencing
- intronic variant
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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