Kabuki Syndrome: a case report with severe ocular abnormalities

Medina, Flávio Mac Cord; Rodríguez, Pamela; Cabral, Renata Tavares de Souza; Castro, Marcia Brazuna de; Llerena, Juan Clinton; Japiassú, Ricardo Miguel

doi:10.1590/s0034-72802013000500013

Cited by 4 publications

(2 citation statements)

References 11 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Refractive errors, nystagmus, corneal pannus, caruncle lipoma (Evans et al, 2004) and prepapillary gliosis (Chuah et al, 2009) have also been reported. Microphthalmia, microcornea and colobomata have also been identified previously in patients with Kabuki syndrome (Kluijt et al, 2000;Turner et al, 2005;Chaudhry et al, 2008;Medina et al, 2013;Patel and Alkuraya, 2015). The typical mid-brow deficiency and lower lid ectropion of Kabuki syndrome can be seen in addition to bilateral anophthalmia.…”

Section: Discussionsupporting

confidence: 53%

Kabuki syndrome

McVeigh

Banka

Reardon

2015

Clinical Dysmorphology

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 53%

Kabuki syndrome

McVeigh

Banka

Reardon

2015

Clinical Dysmorphology

View full text Add to dashboard Cite

show abstract

“…These are defined as characteristic facial appearance, extremity and skeletal anomalies, dermatoglyphic abnormalities, mental retardation, and postnatal growth retardation. [1][2][3] It has been reported that most KS cases in the literature were diagnosed with a typical facial appearance. KS is often sporadic and most of the patients have a negative family history.…”

Section: Introductionmentioning

confidence: 99%

A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation

Kocaaga¹,

Yimenicioglu²

2021

NeuroAsia

View full text Add to dashboard Cite

Kabuki syndrome (KS) is a rare syndrome that involves defects in a wide range of organs, with each organ showing a different severity of symptoms. Two genes have been associated with patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D). The study reported the case of an 18-month-old Turkish boy diagnosed with KS. The patient showed a typical appearance: widely separated eyes, sparse eyebrows, long palpebral fissures, blue sclera, large prominent ears, and micrognathia. The patient was operated on because of bilateral hip dislocation and undescended testicles. He was also followed up by pediatric gastroenterology with asymptomatic liver enzyme elevation (AST- 79 U/L, ALT -68 U/L, ALP -52 U/L). The whole exome sequencing analysis revealed a novel pathogenic c.13285 C>T (p.Gln4429Ter) mutation in the KMT2D gene. The genotype-phenotype correlation of KS was not precisely established. As per our knowledge, there is limited literature which gives information about the hepato-biliary manifestations of KS. Here, we propose that the new mutation of the KMT2D gene may result in the typical facial features of KS with asymptomatic elevated liver enzymes.

show abstract