A case of progressive osseous heteroplasia: a first case in Japan.
Progressive osseous heteroplasia (POH) is a rare, hereditary, disorder (number 166350 in Mendelian Inheritance in Man), which was first identified in 1994 and is characterized by dermal ossification beginning in infancy as a result of increasing and extensive bone formation in deep muscle and fascia. We describe a boy with typical clinical, radiographic, and genetic features of POH. A nonsense mutation in exon 7 of the GNAS1 gene was identified in genomic DNA from the patient. No such case has been reported in East Asia or Japan before this patient.
Kumagai
Kenji
K
Department of Orthopedic Surgery, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki City, Japan. kenjikum@nagasaki-u.ac.jp
Motomura
Katsuaki
K
Egashira
Masayuki
M
Tomita
Masato
M
Suzuki
Masahiko
M
Uetani
Masataka
M
Shindo
Hiroyuki
H
D044466:Asian People / Q000235:genetics*; D002648:Child; D002864:Chromogranins; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D011859:Radiography
D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs