16q12 microdeletion syndrome in two Japanese boys. Issue 5 (October 2014)

• Record Type: Journal Article
• Authors: Morisada, Naoya; Sekine, Takashi; Ishimori, Shingo; Tsuda, Masahiko; Adachi, Masao; Nozu, Kandai; Nakanishi, Koichi; Tanaka, Ryojiro; Iijima, Kazumoto
• Is Part Of: Pediatrics international. Volume 56:Issue 5(2014)
• Page Start: e75
• Page End: e78
• Publication Date: 2014-10
• Subjects: Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12426
• Languages: English
• ISSNs: 1328-8067

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>Microdeletion of 16q12 is a rare chromosomal abnormality. We present the cases of two Japanese patients with developmental and renal symptoms of differing clinical severity. Both patients had 16q12 interstitial microdeletions that included the entire <italic>SALL1</italic> gene. Patient 1 was a 15‐year‐old Japanese boy clinically diagnosed with branchio‐oto‐renal syndrome with mild developmental delay, but with no imperforate anus or polydactyly. Array comparative genome hybridization (aCGH) indicated a 5.2 Mb deletion in 16q12, which included <italic>SALL1</italic>. Patient 2 was a 13‐year‐old Japanese boy diagnosed with Townes–Brocks syndrome and severe developmental delay, epilepsy, and renal insufficiency requiring renal replacement therapy. Fluorescence <italic>in situ</italic> hybridization indicated deletion of the entire <italic>SALL1</italic> gene. Subsequent aCGH showed a 6 Mb deletion in 16q12q13, which included <italic>SALL1</italic>. Precise analysis of the present two cases will give us some clues to elucidate the pathogenic mechanisms of 16q12 microdeletion syndrome.</p> </abstract>