Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization

Nadiya SOSONKINA; Noriko MIYAKE; Naoki HARADA; Dmytro STARENKI; Tohru OHTA; Yoshimitsu FUKUSHIMA; Tomoki KOSHO; Norio NIIKAWA; Naomichi MATSUMOTO

doi:10.11343/amn.52.29

Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization

Nadiya SOSONKINA, Noriko MIYAKE, Naoki HARADA, Dmytro STARENKI, Tohru OHTA, Yoshimitsu FUKUSHIMA, Tomoki KOSHO, Norio NIIKAWA, Naomichi MATSUMOTO

Author information

Nadiya SOSONKINA
The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences
SORST, Japan Science and Technology Agency
Noriko MIYAKE
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences
Naoki HARADA
SORST, Japan Science and Technology Agency
Kyushu Medical Science Nagasaki Laboratory
Dmytro STARENKI
The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido
SORST, Japan Science and Technology Agency
Tohru OHTA
The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido
SORST, Japan Science and Technology Agency
Yoshimitsu FUKUSHIMA
Department of Medical Genetics, Shinshu University School of Medicine
Tomoki KOSHO
Department of Medical Genetics, Shinshu University School of Medicine
Norio NIIKAWA
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences
SORST, Japan Science and Technology Agency
Naomichi MATSUMOTO
SORST, Japan Science and Technology Agency
Department of Human Genetics, Yokohama City University Graduate School of Medicine

Keywords: Sotos syndrome, NSD1, Intragenic deletion, Exon array CGH, Quantitative fluorescent duplex PCR

JOURNAL FREE ACCESS

2007 Volume 52 Issue 1 Pages 29-34

DOI https://doi.org/10.11343/amn.52.29

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Abstract

Sotos syndrome (SoS, OMIM #117550) is an autosomal dominant overgrowth syndrome with pre- and postnatal excessive growth, characteristic craniofacial features, and variable degrees of developmental delay. Haploinsufficiency of the nuclear receptor binding SET domain containing protein 1 (NSD1) gene causes SoS, as two thirds of SoS patients had either a whole-gene microdeletion or an intragenic point mutation. However, the etiology of other patients remains undetermined. In the present study, we analyzed 30 Japanese SoS patients on whether they have NSD1 intragenic deletions by NSD1-specific exon microarray comparative genomic hybridization (array CGH). Although the analysis suggested a deletion at the 5' region of NSD1 in 16 of the 30 patients, no such abnormalities were confirmed by subsequent quantitative fluorescent duplex PCR and fluorescence in situ hybridization. As no intragenic deletions have been identified in our series of SoS patients, other genetic aberrations need to be identified.

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