A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy
| Autor: | Alpan N, Lehesjoki Ae, Hämäläinen Rh, Onur Konuk, Yüksel Konuk Be, Doğanc T, Mustafa Tekin |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Male
Mulibrey nanism Proband Turkey Ubiquitin-Protein Ligases DNA Mutational Analysis Molecular Sequence Data Short stature Pathology and Forensic Medicine Tripartite Motif Proteins 03 medical and health sciences 0302 clinical medicine Mutation screening Humans Medicine 030212 general & internal medicine Fluorescein Angiography Founder mutation Genetics (clinical) 030304 developmental biology Genetics 0303 health sciences Base Sequence business.industry Skull Nuclear Proteins General Medicine medicine.disease Echocardiography Child Preschool Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Anatomy Premature Termination Codon medicine.symptom Mulibrey Nanism business Novel mutation |
| Zdroj: | Clinical Dysmorphology. 16:173-176 |
| ISSN: | 0962-8827 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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