Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
Title | Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | McVeigh TP, Banka S, Reardon W |
Journal | Clin Dysmorphol |
Volume | 24 |
Issue | 4 |
Pagination | 135-9 |
Date Published | 2015 Oct |
ISSN | 1473-5717 |
Keywords | Abnormalities, 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. |
DOI | 10.1097/MCD.0000000000000092 |
Alternate Journal | Clin. Dysmorphol. |
Citation Key | 1650 |
PubMed ID | 26049589 |
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