Copy Number Variants in Short Children Born Small for Gestational Age

• DOI: 10.1159/000367712
• Publication Date: 2014-10-13T08:36:04Z
• Authors: Jan M. Wit; Hermine A. van Du...; Jan B. van Klinken; Janina Caliebe; Cathy A.J. Bosch; Julian C. Lui; Antoinet C.J. Gij...; Egbert Bakker; Martijn H. Breuning; Wilma Oostdijk; Monique Losekoot; Jeffrey Baron; Gerhard Binder; Michael B. Ranke; Claudia A.L. Ruiv...
• Keywords: Genome-wide Association Study

<b><i>Background/Aims:</i></b> In addition to genome-wide association studies (GWAS), height-associated genes may be uncovered by studying individuals with extreme short or tall stature. <b><i>Methods:</i></b> Genome-wide analysis for copy number variants (CNVs), using single nucleotide polymorphism (SNP) arrays, was performed in 49 index cases born small gestational age persistent Segregation performed, and CNVs were compared information from GWAS, gene expression rodents' growth plates, published information. <b><i>Results:</i></b> detected 13 cases. 5 children a known cause of stature found: UPD7, UPD14, duplication the <i>SHOX</i> enhancer region, an<i> IGF1R</i> deletion, 22q11.21 deletion. remaining 8 cases, potential pathogenic detected, either de novo (n = 1), segregating 2), not 5). Bioinformatic suggested that <i>HOXD4</i>, <i>AGPS</i>, <i>PDE11A</i>, <i>OSBPL6</i>, <i>PRKRA </i>and <i>PLEKHA3</i>, possibly <i>DGKB</i> <i>TNFRSF11B</i> are candidate genes<i>.</i> A <i>SERPINA7</i> <i>NRK</i> defect associated an X-linked form <b><i>Conclusion:</i></b> SNP arrays causes prenatal onset several genes.