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HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype

HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
Genetic variation at HNRNPA2B1 is associated with inclusion body myopathy, Paget's disease and paediatric onset oculopharyngeal muscular dystrophy. We present a pedigree where a mother and two daughters presented with adolescent to early-adulthood onset of symptoms reminiscent of oculopharyngeal muscular dystrophy or chronic progressive external ophthalmoplegia, with a later limb-girdle pattern of weakness. Creatine Kinase was ∼1000U/L. Myoimaging identified fatty replacement of sartorius, adductors longus and magnus, biceps femoris, semitendinosus and gastrocnemii. Muscle biopsies showed a variation of fibre size, occasional rimmed vacuoles and increased internalised myonuclei. Cases were heterozygous for a frameshift variant at HNRNPA2B1, consistent with a dominant and fully-penetrant mode of inheritance. Genetic variation at HNRNPA2B1 should be considered in adults with an oculopharyngeal muscular dystrophy-like or chronic progressive external ophthalmoplegia-like myopathy where initial testing fails to identify a cause.
Myopathy, Oculpharyngeal muscular dystrophy, Chronic progressive external ophthalmoplegia, Limb girdle muscular dystrophy
0960-8966
27-31
Carroll, Liam S.
ebc4be38-fa45-45dc-84ae-5fbafeda1f29
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Hammans, Simon R.
6553eac5-9322-4f2b-b677-d4ba698fc10b
Carroll, Liam S.
ebc4be38-fa45-45dc-84ae-5fbafeda1f29
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Hammans, Simon R.
6553eac5-9322-4f2b-b677-d4ba698fc10b

Carroll, Liam S., Ennis, Sarah, Foulds, Nicola and Hammans, Simon R. (2032) HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype. Neuromuscular Disorders, 34, 27-31. (doi:10.1016/j.nmd.2023.11.002).

Record type: Article

Abstract

Genetic variation at HNRNPA2B1 is associated with inclusion body myopathy, Paget's disease and paediatric onset oculopharyngeal muscular dystrophy. We present a pedigree where a mother and two daughters presented with adolescent to early-adulthood onset of symptoms reminiscent of oculopharyngeal muscular dystrophy or chronic progressive external ophthalmoplegia, with a later limb-girdle pattern of weakness. Creatine Kinase was ∼1000U/L. Myoimaging identified fatty replacement of sartorius, adductors longus and magnus, biceps femoris, semitendinosus and gastrocnemii. Muscle biopsies showed a variation of fibre size, occasional rimmed vacuoles and increased internalised myonuclei. Cases were heterozygous for a frameshift variant at HNRNPA2B1, consistent with a dominant and fully-penetrant mode of inheritance. Genetic variation at HNRNPA2B1 should be considered in adults with an oculopharyngeal muscular dystrophy-like or chronic progressive external ophthalmoplegia-like myopathy where initial testing fails to identify a cause.

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Accepted/In Press date: 7 November 2023
e-pub ahead of print date: 15 November 2032
Additional Information: Funding Information: None. Publisher Copyright: © 2023 Elsevier B.V.
Keywords: Myopathy, Oculpharyngeal muscular dystrophy, Chronic progressive external ophthalmoplegia, Limb girdle muscular dystrophy

Identifiers

Local EPrints ID: 484745
URI: http://eprints.soton.ac.uk/id/eprint/484745
ISSN: 0960-8966
PURE UUID: ad7462e3-f969-436c-903b-f6f9876dd189
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869

Catalogue record

Date deposited: 21 Nov 2023 17:32
Last modified: 18 Mar 2024 02:50

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Contributors

Author: Liam S. Carroll
Author: Sarah Ennis ORCID iD
Author: Nicola Foulds
Author: Simon R. Hammans

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