Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp

Misako Okuno; Tsutomu Ogata; Kazuhiko Nakabayashi; Tatsuhiko Urakami; Maki Fukami; Keisuke Nagasaki

doi:10.1038/hgv.2015.20

Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp

Hum Genome Var. 2015 Jul 2:2:15020. doi: 10.1038/hgv.2015.20. eCollection 2015.

Authors

Misako Okuno¹, Tsutomu Ogata², Kazuhiko Nakabayashi³, Tatsuhiko Urakami⁴, Maki Fukami⁵, Keisuke Nagasaki⁶

Affiliations

¹ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
² Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
³ Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development , Tokyo, Japan.
⁴ Department of Pediatrics, Nihon University School of Medicine , Tokyo, Japan.
⁵ Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
⁶ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

Abstract

We report a male patient with three copy-number variations (CNVs) and unique phenotype. He carried ~11.2 Mb terminal duplication on 4q, ~13.4 Mb terminal deletion on 7q and ~1.7 Mb interstitial duplication on Xp22.31, which were identified by array-based comparative genomic hybridization. He manifested mental retardation, mild brain anomalies and skeletal deformities ascribable to these CNVs, together with central precocious puberty and mild adrenocorticotropic hormone overproduction of unknown etiologies.