• A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.

      Jonsson, Dagur Ingi; Ludvigsson, Petur; Aradhya, Swaroop; Sigurdardottir, Sunna; Steinarsdottir, Margret; Hauksdottir, Helga; Jonsson, Jon Johannes; Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland, Reykjavik, Iceland. (Elsevier Science, 2012-06)
      A girl presented with congenital arthrogryposis, intellectual disability and mild bone-related dysmorphism. Molecular workup including the NimbleGen Human CGH 2.1M platform revealed a 1.13 Mb de novo microdeletion on chromosome 12q13.13 of paternal origin. The deletion contains 33 genes, including AAAS, AMRH2, and RARG genes as well as the HOXC gene cluster. At least one gene, CSAD, is expressed in fetal brain. The deletion partially overlaps number of reported benign CNVs and pathogenic duplications. This case appears to represent a previously unknown microdeletion syndrome and possibly the first description in humans of a disease phenotype associated with copy loss of HOXC genes.
    • Facial phenotyping by quantitative photography reflects craniofacial morphology measured on magnetic resonance imaging in Icelandic sleep apnea patients.

      Sutherland, Kate; Schwab, Richard J; Maislin, Greg; Lee, Richard W W; Benedikstdsottir, Bryndis; Pack, Allan I; Gislason, Thorarinn; Juliusson, Sigurdur; Cistulli, Peter A; Royal N Shore Hosp, Dept Resp Med, Ctr Sleep Hlth & Res, St Leonards, NSW 2065, Australia, Univ Sydney, NHMRC Ctr Integrated Res & Understanding Sleep CI, Sydney, NSW 2006, Australia, Univ Penn, Sch Med, Ctr Sleep & Circadian Neurobiol, Philadelphia, PA 19104 USA, Univ Penn, Dept Med, Div Sleep Med, Philadelphia, PA 19104 USA, Gosford Hosp, Dept Resp Med, Gosford, Australia, Univ Newcastle, Sch Med & Publ Hlth, Newcastle, NSW 2300, Australia, Univ Iceland, Fac Med, Reykjavik, Iceland, Landspitali Univ Hosp Fossvogi, Dept Resp Med & Sleep, Reykjavik, Iceland, Natl Univ Hosp Iceland, Dept Otolaryngol, Reykjavik, Iceland (Amer Acad Sleep Medicine, 2014-05)
      (1) To determine whether facial phenotype, measured by quantitative photography, relates to underlying craniofacial obstructive sleep apnea (OSA) risk factors, measured with magnetic resonance imaging (MRI); (2) To assess whether these associations are independent of body size and obesity.