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- Title
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
- 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.
- Subjects
GENETIC disorders; CRANIOSYNOSTOSES; GENETIC mutation; ELBOW dislocation; WRIST dislocations
- Publication
Molecular Medicine Reports, 2017, Vol 15, Issue 5, p3222
- ISSN
1791-2997
- Publication type
Article
- DOI
10.3892/mmr.2017.6408