Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

TitleKabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
Publication TypeJournal Article
Year of Publication2015
AuthorsMcVeigh TP, Banka S, Reardon W
JournalClin Dysmorphol
Volume24
Issue4
Pagination135-9
Date Published2015 Oct
ISSN1473-5717
KeywordsAbnormalities, Multiple, Anophthalmos, Carrier Proteins, Child, Preschool, DNA-Binding Proteins, Face, Hematologic Diseases, Histone Demethylases, Humans, Male, Microphthalmos, Neoplasm Proteins, Nuclear Proteins, Vestibular Diseases
Abstract

Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable.

DOI10.1097/MCD.0000000000000092
Alternate JournalClin. Dysmorphol.
Citation Key1650
PubMed ID26049589