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A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.

Artikel i vetenskaplig tidskrift
Författare Carola Oldfors Hedberg
Niklas Darin
Mia Olsson Engman
Zacharias Orfanos
Christer Thomsen
Peter F M van der Ven
Anders Oldfors
Publicerad i European journal of human genetics : EJHG
Volym 24
Nummer/häfte 12
Sidor 1771-1777
ISSN 1476-5438
Publiceringsår 2016
Publicerad vid Institutionen för biomedicin, avdelningen för patologi
Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Sidor 1771-1777
Språk en
Länkar dx.doi.org/10.1038/ejhg.2016.98
Ämneskategorier Klinisk medicin


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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