title: Coinheritance of Noonan syndrome and Becker muscular dystrophy.
abstract: We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an in-frame DMD gene mutation. The patient also fulfilled the clinical criteria of NS and he harbors a hotspot mutation on PTPN11 gene. This genetic combination may be an explanation for the variability of clinical expression in the family.
authors.affiliation: 3rd Department of Paediatrics, University of Athens, Attiko University Hospital, Greece. argidino@yahoo.com <argidino@yahoo.com>
authors.forename: Argirios
authors.initials: A
authors.lastname: Dinopoulos
authors.forename: Anna
authors.initials: A
authors.lastname: Papadopoulou
authors.forename: Panagiota
authors.initials: P
authors.lastname: Manta
authors.forename: Kiki
authors.initials: K
authors.lastname: Kekou
authors.forename: Tassos
authors.initials: T
authors.lastname: Kanelopoulos
authors.forename: Andreas
authors.initials: A
authors.lastname: Fretzayas
authors.forename: Sofia
authors.initials: S
authors.lastname: Kitsiou
mesh_terms: D002648:Child; D016189:Dystrophin / Q000235:genetics; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D035781:Siblings
chemical_list: C484258:DMD protein, human; D016189:Dystrophin; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11