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Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism. | LitMetric

AI Article Synopsis

  • Klippel-Feil syndrome 4 (KFS4) is an autosomal recessive disorder linked to mutations in the MYO18B gene and features Klippel-Feil anomaly, nemaline myopathy, facial differences, and short stature.
  • A study of 7 patients (6 Saudi, 1 American) revealed that all experienced varying degrees of myopathy, mainly affecting lower limb muscles, and showed distinct facial features, particularly ptosis and bulbous noses.
  • Genetic analysis identified specific variants in MYO18B in these patients, confirming myopathy as a consistent characteristic and highlighting differences in disease presentation based on the presence or absence of Klippel-Feil anomaly.

Article Abstract

Klippel-Feil syndrome 4 (KFS4; MIM# 616549) is an autosomal recessive disorder caused by biallelic pathogenic variants in MYO18B and comprises, in addition to Klippel-Feil anomaly (KFA), nemaline myopathy, facial dysmorphism, and short stature. We aim to outline the natural history of KFS4 and provide an updated description of its clinical, radiological, laboratory, and molecular findings. We comprehensively analyzed the medical records of 6 Saudi and 1 American patients (including 5 previously unpublished cases) with a molecularly confirmed diagnosis of KFS4. All patients had myopathy of varying severity that followed a slowly progressive or non-progressive course, affecting primarily the proximal musculature of the lower limb although hand involvement with distal arthrogryposis and abnormal interphalangeal creases was also observed. KFA and characteristic dysmorphic features, including ptosis and bulbous nose, were observed in all but two patients. The causal MYO18B variants were a founder NM_032608.5:c.6905C>A; p.(Ser2302*) variant in the Saudi patients (P1-P6) and a novel MYO18B homozygous variant (c.6660_6670del;p.[Arg2220Serfs*74]) in the American Caucasian patient (P7). We report the phenotypic and genetic findings in seven patients with KFS4. We describe the natural history of this disease, confirm myopathy as a universal feature and describe its pattern and progression, and note interesting differences between the phenotypes observed in patients with KFA and those without.

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Source
http://dx.doi.org/10.1002/ajmg.a.61957DOI Listing

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