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Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio
  • Giovanni Murialdo
    Department of Internal Medicine and Medical Specialties, University of Genoa, Italy
  • Attilia Piazzi
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Mother-Child Sciences, University of Genoa, Genoa, Italy
  • Giuseppe Badolati
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Mother-Child Sciences, University of Genoa, Genoa, Italy
  • Enrico Calcagno
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Mother-Child Sciences, University of Genoa, Genoa, Italy
  • Agostino Berio
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Mother-Child Sciences, University of Genoa, Genoa, Italy | agostinoberio@ospedale-gaslini.ge.it

Abstract

In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence in situ hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency, dysphagia and nasal voice) and non-branchiomeric muscles (with strabismus and limb hypotrophy). On the basis of the left quadriceps muscle biopsy, showing anisometry and prevalence of type 1 fibers, and on literature data, we underline the relevance of TBX1 gene (regulator of neural crest cells and activator of myogenic factors in branchiomeric muscles development) and of PAX3 gene (present in neural crest, inducing migration of these cells and reported in non-branchiomeric muscles). We conclude that the case of OAVS presented a generalized myopathy and we hypothesize that a cluster of genes strictly neural crest cells related, including TBX1 and PAX3, may be responsible of the branchiomeric and non-branchiomeric myopathy; alternatively, a regulatory mechanism abnormally common to OAVS and velo-cardio-facial syndrome could be present.

Keywords

Oculo-auriculo-vertebral spectrum; Non-branchiomeric muscle biopsy; Neural crest cells; Velopharyngeal insufficiency

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Submitted: 2015-07-17 09:13:57
Published: 2016-06-27 12:05:50
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Copyright (c) 2016 Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio

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