title: Expanding the clinical spectrum of POMT1 phenotype.
abstract: Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes.
authors.affiliation: Department of Laboratory Medicine, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: S
authors.initials: S
authors.lastname: Petrini
authors.forename: R
authors.initials: R
authors.lastname: Biancheri
authors.forename: M
authors.initials: M
authors.lastname: Pane
authors.forename: M
authors.initials: M
authors.lastname: Pedemonte
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: A
authors.initials: A
authors.lastname: Falace
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002675:Child, Preschool; D018389:Codon, Nonsense; D003286:Contracture / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006031:Glycosylation; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007866:Leg / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008364:Mannosyltransferases / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D011499:Protein Processing, Post-Translational; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase