Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review

Published on Mar 4, 2021in Ophthalmic Genetics1.308
· DOI :10.1080/13816810.2020.1861308
Chong Kun Cheon14
Estimated H-index: 14
(PNU: Pusan National University),
Hee Young Choi12
Estimated H-index: 12
(PNU: Pusan National University)
+ 2 AuthorsSu Jin Kim1
Estimated H-index: 1
(PNU: Pusan National University)
Background: We investigated the ocular manifestations in patients with Kabuki syndrome(KS). Methods: A retrospective chart review was performed in 10 patients with KS were referred to the Department of Ophthalmology for evaluation of ocular manifestations. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included best-corrected visual acuity, intraocular pressure, anterior segment, adnexal examination, and dilated fundus examination. Results: Mutations in the KMT2D gene were identified in all of the 10 patients with KS. No deletion or point mutation was found in the KDM6A gene. In our patients, 20% had ptosis, 60% had strabismus, 90% had lid changes and 10% had amblyopia. Five patients did not undergo the visual acuity test due to intellectual disability. Conclusions: Ophthalmic abnormalities are frequently associated with KS. The importance of ophthalmological examination in all patients with KS for early detection of ocular anomalies to prevent visual impairment cannot be underemphasized. Abbreviations: KS: Kabuki syndrome.
#1Nina BögershausenH-Index: 12
#2Vincent GatinoisH-Index: 13
Last. Bernd WollnikH-Index: 58
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Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), ...
72 CitationsSource
#2Leif R. NeitzelH-Index: 1
Last. Tamim H. Shaikh (University of Colorado Denver)H-Index: 47
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Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by distinctive facial features, global developmental delay, intellectual disability and cardiovascular and musculoskeletal abnormalities. While mutations in KMT2D have been identified in a majority of KS patients, a few patients have mutations in KDM6A. We analyzed 40 individuals clinically diagnosed with KS for mutations in KMT2D and KDM6A. Mutations were detected in KMT2D in 12 and KDM6A in 4 cases, respectively....
80 CitationsSource
#1Noriko Miyake (YCU: Yokohama City University)H-Index: 58
#2Eriko Koshimizu (YCU: Yokohama City University)H-Index: 16
Last. Norio Niikawa (HSUH: Health Sciences University of Hokkaido)H-Index: 82
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Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole e...
105 CitationsSource
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Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and congenital anomalies. Since the identification of MLL2 mutations as the primary cause of KS, such mutations have been identified in 56%–76% of affected individuals, suggesting that there may be additional genes associated with KS. Here, we describe three KS individuals with de novo partial or complete deletions of an X chromosome gene, KDM6A, that encodes a histone demethylase that interacts with MLL2. Although KD...
235 CitationsSource
#1Mark C. Hannibal (UW: University of Washington)H-Index: 22
#2Kati J. Buckingham (UW: University of Washington)H-Index: 17
Last. Michael J. Bamshad (UW: University of Washington)H-Index: 88
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Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmission in more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently reported that Kabuki syndrome is caused by mutations in MLL2, a gene that encodes a T...
133 CitationsSource
#1Sarah B. Ng (UW: University of Washington)H-Index: 14
#2Abigail W. Bigham (UW: University of Washington)H-Index: 25
Last. Jay Shendure (UW: University of Washington)H-Index: 135
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Jay Shendure and colleagues report exome sequencing of ten individuals with Kabuki syndrome. They identify mutations in MLL2, encoding a Trithorax-group histone methyltransferase, as causal for this rare autosomal dominant malformation disorder.
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#1Margaret P. Adam (Stanford University)H-Index: 29
#2Louanne Hudgins (Stanford University)H-Index: 48
Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardat...
230 CitationsSource
#1Jeffrey E. Ming (UPenn: University of Pennsylvania)H-Index: 26
#2Karen L. Russell (UPenn: University of Pennsylvania)H-Index: 8
Last. Elaine H. Zackai (UPenn: University of Pennsylvania)H-Index: 112
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Jeffrey E. Ming,* Karen L. Russell, Lynn Bason, Donna M. McDonald-McGinn, and Elaine H. ZackaiDivision of Human Genetics and Molecular Biology, Department of Pediatrics, The Children’s Hospital of Philadelphiaand The University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaKabuki (Niikawa–Kuroki)syndrome is asso-ciated with growth retardation, develop-mental delay, congenital heart disease, cleftpalate, and characteristic facial features.Although the external appearance of theeye...
60 CitationsSource
Kabuki make-up syndrome (KMS, OMIM 147920) is an MCA/MR syndrome of unknown cause. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. Approximately more than 350 cases have been reported from all over the world. Besides these five cardinal manifestations, joint laxity (74%), dental abnormalities (68%), and susceptibility to infections including recurrent otitis media (63%) were well recognized a...
225 CitationsSource
#1Marja W. Wessels (EUR: Erasmus University Rotterdam)H-Index: 33
#2Alice S. BrooksH-Index: 24
Last. P. J. WillemsH-Index: 19
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The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three hundred patients. Typical findings include mild to moderate mental retardation, fetal pads, cleft palate, and characteristic facies with long palpebral fissures, everted lower lateral eyelids and arched eyebrows. Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients.
119 CitationsSource
Cited By2
#1Rona Merdler-Rabinowicz (TAU: Tel Aviv University)H-Index: 2
#2Daphna Prat (Sheba Medical Center)H-Index: 2
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Abstract Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Medical records of all patients diagnosed with KS in our...
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Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic f...