A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.
| Autor: | Sakaguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan., Žigman T; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia., Petković Ramadža D; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.; School of Medicine, University of Zagreb, Zagreb, Croatia., Omerza L; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.; School of Medicine, University of Zagreb, Zagreb, Croatia., Pušeljić S; Department of Pediatrics, University Hospital Center Osijek, Osijek, Croatia.; School of Medicine, Osijek University, Osijek, Croatia., Ereš Hrvaćanin Z; Department of Pediatrics, General Hospital 'Dr. Josip Benčević', Slavonski Brod, Croatia., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan., Barić I; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.; School of Medicine, University of Zagreb, Zagreb, Croatia. |
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| Jazyk: | angličtina |
| Zdroj: | Human genome variation [Hum Genome Var] 2018 Mar 08; Vol. 5, pp. 18005. Date of Electronic Publication: 2018 Mar 08 (Print Publication: 2018). |
| DOI: | 10.1038/hgv.2018.5 |
| Abstrakt: | Biallelic mutations in the post-GPI attachment to proteins 3 ( PGAP3 ) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features. Competing Interests: The authors declare no conflict of interest. |
| Databáze: | MEDLINE |
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