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., ...More

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.7, pp.1686-1689, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2012
  • Doi Number: 10.1002/ajmg.a.35371
  • Title of Journal : AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Page Numbers: pp.1686-1689
  • Keywords: microcephaly lymphedema chorioretinal dysplasia syndrome, KIF11, novel mutation, midline cleft tongue, ATRIAL SEPTAL-DEFECT, OF-THE-LITERATURE, CONGENITAL LYMPHEDEMA

Abstract

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.