Nationwide survey of Baller‑Gerold syndrome in Japanese population

Kaneko,Hideo; Izumi,Rie; Oda,Hirotsugu; Ohara,Osamu; Sameshima,Kiyoko; Ohnishi,Hidenori; Fukao,Toshiyuki; Funato,Michinori

doi:10.3892/mmr.2017.6408

Nationwide survey of Baller‑Gerold syndrome in Japanese population

Authors:
- Hideo Kaneko
- Rie Izumi
- Hirotsugu Oda
- Osamu Ohara
- Kiyoko Sameshima
- Hidenori Ohnishi
- Toshiyuki Fukao
- Michinori Funato
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Affiliations: Department of Clinical Research, National Hospital Organization Nagara Medical Center, Gifu 502‑8558, Japan, Niigata Prefecture Hamagumi Medical Rehabilitation Center for Children, Niigata 951‑8121, Japan, Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences (RIKEN‑IMS), Yokohama, Kanagawa 230‑0045, Japan, Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Chiba 292‑0818, Japan, Division of Medical Genetics, Gunma Children's Medical Center, Shibukawa, Gunma 377‑8577, Japan, Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501‑1194, Japan
Published online on: March 28, 2017 https://doi.org/10.3892/mmr.2017.6408
Pages: 3222-3224

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Abstract

Baller-Gerold syndrome (BGS) is a rare autosomal genetic disorder characterized by radial aplasia/hypoplasia and craniosynostosis. The causative gene for BGS encodes RECQL4, which belongs to the RecQ helicase family. To understand BGS patients in Japan, a nationwide survey was conducted, which identified 2 families and 3 patients affected by the syndrome. All the three patients showed radial defects and craniosynostosis. In one patient who showed a dislocated joint of the hip and flexion contracture of both the elbow joints and wrists at birth, a homozygous large deletion in the RECQL4 gene was identified. This is the first reported case of BGS in Japan caused by RECQL4 gene mutation.

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