A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family
Makaleler > Tam Makale · 2012
Yazarlar: Filiz HAZAN, Pia OSTERGAARD, Taylan OZTURK, Esin KANTEKIN, Fusun ATLIHAN, Steve JEFFERY, Feriştah Ferda ÖZKINAY
American Journal of Medical Genetics Part A, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2012, cilt 158A, ss 1686-1689
DOI: 10.1002/ajmg.a.35371
Özet
Microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome.