A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.158A, sa.7, ss.1686-1689, 2012 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 158A Sayı: 7
- Basım Tarihi: 2012
- Doi Numarası: 10.1002/ajmg.a.35371
- Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.1686-1689
- Anahtar Kelimeler: microcephaly lymphedema chorioretinal dysplasia syndrome, KIF11, novel mutation, midline cleft tongue
- Dokuz Eylül Üniversitesi Adresli: Evet
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.