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Triplications of chromosome 1p36.3, including the genes GABRD and SKI,are associated with a developmental disorder and a facial gestalt
Authors:Elise Pelgrims  Sally Ann Lynch  Laurens Hannes  Mariëtte J. V. Hoffer  Cindy Melotte  Arie Van Haeringen  Ann Swillen  Jeroen Breckpot
Affiliation:1. Department of Human Genetics, Catholic University Leuven, Leuven, Belgium;2. Department of Clinical Genetics, Children's University Hospital, Dublin, Republic of Ireland;3. Department of Human Genetics, Catholic University Leuven, Leuven, Belgium

Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium;4. Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands;5. Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium

Abstract:
Triplication of chromosomal region 1p36.3 is a rare genomic rearrangement. In this report, we delineate the phenotypic spectrum associated with 1p36.3 triplications. We describe four patients with microtriplications of variable size, but with a strong phenotypic overlap, and compare them to previously described patients with an isolated triplication or duplication of this region. The 1p36.3 triplication syndrome is associated with a distinct phenotype, characterized by global developmental delay, moderate intellectual disability, seizures, behavioral problems, and specific facial dysmorphic features, including ptosis, hypertelorism, and arched eyebrows. The de novo occurrence of these microtriplications demonstrates the reduced reproductive fitness associated with this genotype, in contrast to 1p36.3 duplications which are mostly inherited and can be associated with similar facial features but with a less severe developmental phenotype. The shared triplicated region encompasses four disease-related genes of which GABRD and SKI are most likely to contribute to the phenotype.
Keywords:1p36.3  GABRD  neurodevelopmental disorders  SKI  triplication
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