Key result
Truncating MYO18B mutation linked to a novel developmental disorder featuring Klippel-Feil anomaly and myopathy.
Why the study?
A novel syndromic association of Klippel-Feil anomaly with myopathy and characteristic facies linked to MYO18B mutation was not previously described.
Population
Two patients from two unrelated consanguineous families with KFA, myopathy, short stature, microcephaly, and distinctive facies
Design
Case report with clinical phenotyping and combined autozygome/exome analysis
Authors
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Novel KFA-myopathy-microcephaly candidate syndrome in consanguineous families; leaves open the causative gene and broader applicability.
Case Report (n=2)
Deficiency of MYO18B is linked to a novel developmental disorder combining Klippel-Feil anomaly with myopathy.
Alazami et al. (2015) conducted a case report in Klippel-Feil anomaly and myopathy (n=2). MYO18B null mutation was evaluated on Identification of genetic mutation linked to the syndrome. A truncating mutation in MYO18B was identified as the cause of a novel developmental disorder combining Klippel-Feil anomaly, myopathy, mild short stature, microcephaly, and distinctive facies.
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