A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family


HAZAN F., OSTERGAARD P., OZTURK T., KANTEKIN E., ATLIHAN F., JEFFERY S., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.1686-1689, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Basım Tarihi: 2012
  • Doi Numarası: 10.1002/ajmg.a.35371
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Sayfa Sayıları: ss.1686-1689

Özet

Microcephalylymphedemachorioretinal 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. (C) 2012 Wiley Periodicals, Inc.