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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; Ozkinay, F (2012) 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, 158A (7). 1686 - 1689 (4). ISSN 1552-4825 https://doi.org/10.1002/ajmg.a.35371
SGUL Authors: Jeffery, Stephen Ostergaard, Pia

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Abstract

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 mutationinexon2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome.

Item Type: Article
Additional Information: PubMed ID: 22653704
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, microcephaly lymphedema chorioretinal dysplasia syndrome, KIF11, novel mutation, midline cleft tongue, ATRIAL SEPTAL-DEFECT, OF-THE-LITERATURE, CONGENITAL LYMPHEDEMA, microcephaly lymphedema chorioretinal dysplasia syndrome, KIF11, novel mutation, midline cleft tongue
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
ISSN: 1552-4825
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Dates:
DateEvent
1 July 2012Published
Web of Science ID: WOS:000305327000027
URI: http://sgultest.da.ulcc.ac.uk/id/eprint/100976
Publisher's version: https://doi.org/10.1002/ajmg.a.35371

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