A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.
Mulibrey nanism is a rare autosomal-recessive disorder characterized by prenatal onset severe growth retardation and pericardial constriction associated with abnormalities of muscle, liver, brain and eye. More than 80% of previously reported patients are of Finnish origin in whom a founder mutation in the TRIM37 gene have been described. We report on a 7-year-old Turkish boy who presented with classical phenotypic features of mulibrey nanism. Mutation screening of the TRIM37 gene revealed that the proband had a homozygous two base pair deletion, c.1894_1895delGA, resulting in a frame-shift and a premature termination codon. Our proband is one of the rare examples of mulibrey nanism outside Finland and extends the mutation spectrum in this disorder.
Doğancı
Tümay
T
Pediatric Gastroenterology Unit Pediatric Cardiology Unit, Dışkapı Children's Hospital Division of Pediatric Genetics, Ankara University School of Medicine Department of Ophthalmology, Gazi University School of Medicine, Ankara, Turkey Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, Helsinki, Finland.
Yüksel Konuk
Berrin E
BE
Alpan
Nursel
N
Konuk
Onur
O
Hämäläinen
Riikka H
RH
Lehesjoki
Anna-Elina
AE
Tekin
Mustafa
M
D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004452:Echocardiography; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D050336:Mulibrey Nanism / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D000070584:Tripartite Motif Proteins; D014421:Turkey; D044767:Ubiquitin-Protein Ligases
D009687:Nuclear Proteins; D000070584:Tripartite Motif Proteins; C411745:TRIM37 protein, human; D044767:Ubiquitin-Protein Ligases