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On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion

Journal article
Authors Alexandra Topa
Lena Samuelsson
Lovisa Lovmar
Göran Stenman
Lars Kölby
Published in American Journal of Medical Genetics Part A
Volume 173
Issue 8
Pages 2219-2225
ISSN 1552-4825
Publication year 2017
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Pages 2219-2225
Language en
Links doi.org/10.1002/ajmg.a.38296
Keywords 10q deletion, craniosynostosis, Kabuki syndrome, KMT2D, niikawa-kuroki syndrome, genomic disorder, individuals, kdm6a, mll2, Genetics & Heredity
Subject categories Medical Biotechnology

Abstract

Craniosynostosis has rarely been described in patients with Kabuki syndrome. We report here a boy with facial asymmetry due to combined premature synostosis of the right coronal and sagittal sutures as well as several symptoms reminiscent of Kabuki syndrome (KS). Our case supports previous observations and suggests that craniosynostosis is a part of the KS phenotype. The uniqueness of our case is the sporadic co-occurrence of two genetic disorders, that is, a de novo frameshift variant in the KMT2D gene and a de novo 3.2 Mbp 10q22.3q23.1 deletion. Our findings emphasize the importance of the initial clinical assessment of children with craniosynostosis and that genomic and monogenic disorders, such as Kabuki syndrome, should be considered among the differential diagnoses of syndromic forms of craniosynostosis.

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