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A novel mutation of KIF11 in a child with 22q11.2 deletion syndrome associated with MCLMR

Güneş, N; Taşdemir, E; Jeffery, H; Yetik, H; Ostergaard, P; Tüysüz, B (2018) A novel mutation of KIF11 in a child with 22q11.2 deletion syndrome associated with MCLMR. Molecular Syndromology, 9 (5). pp. 266-270. ISSN 1661-8777 https://doi.org/10.1159/000491568
SGUL Authors: Ostergaard, Pia

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Abstract

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 152950) is a rare autosomal dominantly inherited syndrome. Mutations in the kinesin family member 11 (KIF11) gene have been associated with this condition. Here, we report a de novo novel heterozygous missense mutation in exon 12 of the KIF11 gene [c.1402T>G; p.(Leu468Val)] in a boy with 22q11.2 microdeletion syndrome. His major features were microcephaly, ventricular septal defect, congenital lymphedema of the feet, and distinct facial appearance including upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with a thin upper lip, pointed chin, and prominent ears. His right eye was enucleated due to subretinal hemorrhage and retinal detachment at age 3 months. Lacunae of chorioretinal atrophy and the pale optic disc were present in the left eye. He also had a de novo 1.6-Mb microdeletion in the Di George/VCFS region of chromosome 22q11.2 in SNP array, which was confirmed by FISH analysis. In this study, for the first time, we describe the co-occurrence of a KIF11 mutation and 22q11.2 deletion syndrome in a patient with MCLMR.

Item Type: Article
Additional Information: This is the peer-reviewed but unedited manuscript version of the following article: Molecular Syndromology 2018;9:266-270 (DOI: 10.1159/000491568). The final, published version is available at http://www.karger.com/?doi=10.1159/000491568
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Molecular Syndromology
ISSN: 1661-8777
Dates:
DateEvent
November 2018Published
20 July 2018Published Online
22 May 2018Accepted
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
14.08.14/08Turkish Pediatric AssociationUNSPECIFIED
URI: https://openaccess.sgul.ac.uk/id/eprint/109940
Publisher's version: https://doi.org/10.1159/000491568

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