title: 17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.
abstract: 17p13.3 microduplications classified as class I duplications involving YWHAE but not PAFAH1B1 (formerly LIS1) and class II duplications which extend to involve PAFAH1B1, are associated with diverse phenotypes including intellectual disability and structural brain malformations. We report a girl with an approximately 1.58 Mb apparently terminal gain of 17p13.3, which contains more than 20 genes including the YWHAE and CRK genes (OMIM: 164762). She had increased growth factors accompanied by pathologic tall stature. In addition to these, she developed central precocious puberty at 7 years old. In individuals with class I 17p13.3 microduplications including CRK, we recommend biochemical evaluation of the growth hormone axis. Providers caring for these patients should be aware of their possible risk for the development of central precocious puberty.
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, 43205, USA. Electronic address: rohan.henry@nationwidechildrens.org.
authors.forename: Rohan K
authors.initials: RK
authors.lastname: Henry
authors.affiliation: Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, USA; Department of Pathology, The Ohio State University College of Medicine, USA.
authors.forename: Caroline
authors.initials: C
authors.lastname: Astbury
authors.affiliation: Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development (NICHD), National Institute of Health (NIH), Bethesda, MD, 20892, USA.
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
authors.affiliation: Division of Molecular & Human Genetics, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, USA.
authors.forename: Scott E
authors.initials: SE
authors.lastname: Hickey
mesh_terms: D002648:Child; D002675:Child, Preschool; D058674:Chromosome Duplication / Q000235:genetics; D002886:Chromosomes, Human, Pair 17; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D013006:Growth Hormone / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D050737:Proto-Oncogene Proteins c-crk / Q000235:genetics*
chemical_list: C485285:CRK protein, human; D036341:Intercellular Signaling Peptides and Proteins; D050737:Proto-Oncogene Proteins c-crk; D013006:Growth Hormone
keywords: 17p13.3 microduplications; CRK gene; Central precocious puberty; Growth factors