Screening of known disease genes in congenital scoliosis.
Kazuki TakedaIkuyo KouShuji MizumotoShuhei YamadaNoriaki KawakamiMasahiro NakajimaNao OtomoYoji OguraNoriko MiyakeNaomichi MatsumotoToshiaki KotaniHideki SudoIkuho YonezawaKoki UnoHiroshi TaneichiKei WatanabeHideki ShigematsuRyo SugawaraYuki TaniguchiShohei MinamiMasaya NakamuraMorio Matsumotonull nullKota WatanabeShiro IkegawaPublished in: Molecular genetics & genomic medicine (2018)
A LFNG mutation is reported in a case of spondylocostal dysostosis (SCD), a skeletal dysplasia with severe malformations of vertebra and rib. The CS patient with LFNG mutations had multiple vertebral malformations including hemivertebrae, butterfly vertebrae, and block vertebrae, and rib malformations. LFNG mutations may cause a spectrum of phenotypes including CS and SCD. The current list of known disease genes could explain only a small fraction of genetic cause of CS.