Abstract
Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Child
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Female
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Heterozygote
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Humans
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Hypertrophy
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Intellectual Disability / genetics*
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Intellectual Disability / pathology
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Magnetic Resonance Imaging
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Mannosyltransferases / genetics*
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Microcephaly / genetics*
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Microcephaly / pathology
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Molecular Sequence Data
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Muscle, Skeletal / pathology
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Muscular Dystrophies / congenital
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Muscular Dystrophies / genetics*
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Muscular Dystrophies / pathology
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Phenotype
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Point Mutation*
Substances
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Mannosyltransferases
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protein O-mannosyltransferase