ArticleEuropean journal of human genetics : EJHG2016
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 21 citations in OpenAlex.
- Distal Myopathy and Kyphoscoliosis Associated with a Kyphoscoliosis Peptidase Gene Mutation: A Rare Case.Annals of Indian Academy of Neurology · 2026Article
- Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?Journal of neuromuscular diseases · 2026Article
- Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.Frontiers in neurology · 2025Article
- Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.Journal of human genetics · 2024Article
- Human myofiber-enriched aging-induced lncRNA FRAIL1 promotes loss of skeletal muscle function.Aging cell · 2024Article
- Myofibrillar myopathy hallmarks associated with ZAK deficiency.Human molecular genetics · 2023Article
- Single cell RNA sequencing analysis of mouse cochlear supporting cell transcriptomes with activated ERBB2 receptor indicates a cell-specific response that promotes CD44 activation.Frontiers in cellular neuroscience · 2022Article
- A novel homozygous KY variant causing a complex neurological disorder.European journal of medical genetics · 2020Article
- Body Posture Defects and Body Composition in School-Age Children.Children (Basel, Switzerland) · 2020Article
- Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy.Genes & diseases · 2018Article
- Transcriptional upregulation ofDisease models & mechanisms · 2018Article
- Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.European journal of human genetics : EJHG · 2017Article
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7 authors at 3 institutions in 2 countries.
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Abstract
We describe a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old girl with walking difficulties from 2 years of age presented with generalized muscle weakness; mild contractures in the shoulders, hips and feet; cavus feet; and lordosis but no scoliosis. She had previously been operated with Achilles tendon elongation. Whole-body MRI showed atrophy and fatty infiltration in the calf muscles. Biopsy of the vastus lateralis muscle showed variability in fiber size, with some internalized nuclei and numerous very small fibers with variable expression of developmental myosin heavy chain isoforms. Some small fibers showed abnormal sarcomeres with thickened Z-discs and small nemaline rods. Whole-exome sequencing revealed a homozygous one-base deletion (c.1071delG, p.(Thr358Leufs*3)) in KY, predicted to result in a truncated protein. Analysis of an RNA panel showed that KY is predominantly expressed in skeletal muscle in humans. A recessive variant in the murine ortholog Ky was previously described in a spontaneously generated mouse mutant with kyphoscoliosis, which developed postnatally and was caused by dystrophy of postural muscles. The abnormal distribution of Xin and Ky-binding partner filamin C in the muscle fibers of our patient was highly similar to their altered localization in ky/ky mouse muscle fibers. We describe the first human case of disease associated with KY inactivation. As in the mouse model, the affected child showed a neuromuscular disorder - but in contrast, no kyphoscoliosis.
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