Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.
Neuropediatrics
; 46(4): 282-6, 2015 Aug.
Article
en En
| MEDLINE
| ID: mdl-26110311
ABSTRACT
Mutations in the TRPV4 gene, encoding a polymodal Ca(2+) permeable channel, are causative for several human diseases, affecting the skeletal and the peripheral nervous system with highly variable phenotypes. We report on a family with two affected individuals. The father clinically suffered from a classical scapuloperoneal syndrome, while the son presented with a severe neonatal onset with congenital respiratory distress, feeding problems and arthrogryposis multiplex. Multi-Gene Panel sequencing by next generation sequencing revealed the heterozygous mutation c.805C>T (p.R269C) in the TRPV4 gene. Long-term observation over two decades showed no relevant disease progression in the father and, after a dramatic neonatal period, a significant improvement in the son who became ambulant with orthoses at the age of 5 years, suggesting a reasonably good prognosis even in cases with severe neonatal onset. Long-term findings in muscle ultrasound correlated with the clinical course, showing stable or even slightly improved findings. Neurography revealed a late-onset sensory neuropathy in the father, which was so far not described in TRPV4 neuropathies.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Artrogriposis
/
Atrofia Muscular Espinal
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Trastornos Heredodegenerativos del Sistema Nervioso
/
Canales Catiónicos TRPV
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Neuropediatrics
Año:
2015
Tipo del documento:
Article
País de afiliación:
Alemania