| Autor: |
Cuk M; Department of Pediatrics, School of Medicine, University Hospital Centre Zagreb, University of Zagreb, 10000 Zagreb, Croatia., Unal B; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Jandric N; Department of Pediatrics, School of Medicine, University Hospital Centre Zagreb, University of Zagreb, 10000 Zagreb, Croatia., Hayes CP; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Walker M; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Abraamyan F; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Gornik KC; Department of Laboratory Diagnostics, Division of Cytogenetics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Ghazani AA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Harvard Medical School, Boston, MA 02115, USA. |
| Abstrakt: |
Smith-Magenis syndrome is a complex neurobehavioral genetic disorder with a broad phenotypic spectrum. While the etiology of SMS is commonly attributed to one-copy interstitial deletion in the 17p11.2 region (90-95% of cases), variants identified by sequence analysis in RAI1 have also been reported in 5-10% of cases. In this study, we report a 9-year-old male with global cognitive and psychomotor developmental delay, musculoskeletal and cardiovascular abnormalities, and dysmorphic craniofacial features. Joint analysis was performed on the whole-genome sequencing data obtained from the proband, unaffected parents, and unaffected brother. This quad analysis identified the novel de novo RAI1 :c.2736delC variant. This is the first report of this variant in the literature. This report highlights the details of genome analysis and the patient's phenotypic spectrum. |
