title: Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.
abstract: Multiple synostosis syndrome (SYNS) is an autosomal dominant skeletal disorder characterized by facial dysmorphism, progressive fusion of multiple joints, and conductive hearing loss. Currently, three genes, NOG, GDF5, and FGF9, have been identified as causative of SYNS. However, due to the phenotypic and genotypic heterogeneity of SYNS, as well as its extreme rarity, it is difficult to diagnose, either by clinical or genetic means. Here, we describe three unrelated Korean families with three different, novel NOG mutations. These mutations are located on the region of the protein critical for appropriate NOG function. The patients shared the general features of SYNS, but the phenotype was expressed differently both within and between the families. In addition, this phenotypic diversity was irrespective of the age of patients, indicating the importance of surveillance for the full spectrum of SYNS in each affected patient. Our report expands understanding of this rare condition from both clinical and genetic perspectives.
authors.affiliation: Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors.forename: Beom Hee
authors.initials: BH
authors.lastname: Lee
authors.affiliation: Department of Radiology, Gachon University Gil Medical Center, Incheon, Republic of Korea.
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors.forename: Hye-Kyung
authors.initials: HK
authors.lastname: Yoon
authors.affiliation: Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
authors.forename: Jae-Min
authors.initials: JM
authors.lastname: Kim
authors.affiliation: Department of Orthopedic Surgery, Haeundae Paik Hospital, Inje University Medical College, Busan, Republic of Korea.
authors.forename: Kunbo
authors.initials: K
authors.lastname: Park
authors.affiliation: Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address: hwyoo@amc.seoul.kr.
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D000293:Adolescent; D002348:Carpal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011859:Radiography; D013199:Stapes / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013580:Synostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D013639:Tarsal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000099176:Noggin Protein
chemical_list: D002352:Carrier Proteins; D000099176:Noggin Protein
keywords: Multiple synostosis syndrome; NOG; Symphalangism