title: Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.
abstract: We describe two siblings with carpal and tarsal synostoses associated with transverse deficiencies of the toes. Mutation analysis of the NOG gene revealed a double missense mutation in both boys resulting in Pro42Ala and Pro50Arg. The parents were clinically unaffected, and these two mutations were not detected in their white blood cells or buccal mucosa. This indicates the presence of gonadal mosaicism or a low level of somatic mosaicism in one of the parents.
authors.affiliation: Centre for Human Genetics, Herestraat 49, Leuven, Belgium. philippe.debeer@med.kuleuven.ac.be
authors.forename: Philippe
authors.initials: P
authors.lastname: Debeer
authors.forename: Christel
authors.initials: C
authors.lastname: Huysmans
authors.forename: Wim J M
authors.initials: WJ
authors.lastname: Van de Ven
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002348:Carpal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002352:Carrier Proteins; D002648:Child; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D011859:Radiography; D035781:Siblings; D013580:Synostosis / Q000473:pathology*; D013639:Tarsal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities*; D000099176:Noggin Protein
chemical_list: D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D000099176:Noggin Protein