Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.
J Hum Genet
; 69(7): 345-348, 2024 Jul.
Article
em En
| MEDLINE
| ID: mdl-38589508
ABSTRACT
We herein report a case with a novel homozygous variant in the kyphoscoliosis peptidase (KY) gene. A 58-year-old Japanese female was referred to our hospital with a gait disturbance that gradually worsened after the age of 50. She had bilateral equinus foot deformity since early childhood. Neurological examination revealed moderate weakness of the neck, trunk, femoral, and brachial muscles, mild respiratory failure, and areflexia. Whole-exome sequencing revealed a novel homozygous frameshift variant of the KY gene, NM_178554.6c.824del p.(Glu275Glyfs*53). Our case demonstrated that KY-associated neuromuscular disease can present with extremely slow progressive muscle weakness and respiratory failure over a long natural course.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Escoliose
/
Homozigoto
/
Cifose
Limite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Japão