title: Nationwide survey of Baller‑Gerold syndrome in Japanese population.
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.
authors.affiliation: Department of Clinical Research, National Hospital Organization Nagara Medical Center, Gifu 502‑8558, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Kaneko
authors.affiliation: Niigata Prefecture Hamagumi Medical Rehabilitation Center for Children, Niigata 951‑8121, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Izumi
authors.affiliation: Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences (RIKEN‑IMS), Yokohama, Kanagawa 230‑0045, Japan.
authors.forename: Hirotsugu
authors.initials: H
authors.lastname: Oda
authors.affiliation: Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Chiba 292‑0818, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.affiliation: Division of Medical Genetics, Gunma Children's Medical Center, Shibukawa, Gunma 377‑8577, Japan.
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Sameshima
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501‑1194, Japan.
authors.forename: Hidenori
authors.initials: H
authors.lastname: Ohnishi
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501‑1194, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.affiliation: Department of Clinical Research, National Hospital Organization Nagara Medical Center, Gifu 502‑8558, Japan.
authors.forename: Michinori
authors.initials: M
authors.lastname: Funato
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D003398:Craniosynostoses / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D007564:Japan; D007963:Leukocytes, Mononuclear / Q000166:cytology / Q000378:metabolism; D008297:Male; D010641:Phenotype; D011884:Radius / Q000002:abnormalities*; D053484:RecQ Helicases / Q000235:genetics; D017384:Sequence Deletion; D011795:Surveys and Questionnaires
chemical_list: C506731:RECQL4 protein, human; D053484:RecQ Helicases