title: A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis.
abstract: We describe the case of a Sardinian female child affected by SMARD1, a genetic composite heterozygote, in whom a new nonsense mutation (R788X) was found. A sister was affected by generalized muscular hypotonia and died from respiratory insufficiency at the age of 9 months, before a diagnostic definition had been formulated. Our patient died at 6 months due to respiratory insufficiency. At autopsy some differences with previous published cases were observed. In fact, our case is to the best of our knowledge the first report of giant cell hepatitis and myocarditis in SMARD1-affected patients, although this could be a chance association.
authors.affiliation: Department of Paediatrics, Neonatal Intensive Care Unit, Neonatal Pathology, Puericultura Institute and Neonatal Section, University of Cagliari, Cagliari, Italy. vafanos@tin.it
authors.forename: Vassilios
authors.initials: V
authors.lastname: Fanos
authors.forename: A
authors.initials: A
authors.lastname: Cuccu
authors.forename: S
authors.initials: S
authors.lastname: Nemolato
authors.forename: V
authors.initials: V
authors.lastname: Marinelli
authors.forename: G
authors.initials: G
authors.lastname: Faa
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D015726:Giant Cells / Q000473:pathology / Q000821:virology; D006505:Hepatitis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007558:Italy; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors