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2015 ; 58
(9
): 317-24
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Kabuki syndrome: clinical and molecular characteristics
#MMPMID26512256
Cheon CK
; Ko JM
Korean J Pediatr
2015[Sep]; 58
(9
): 317-24
PMID26512256
show ga
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital
anomalies and mental retardation. Other characteristics include a peculiar facial
gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies,
and immunological defects. Whole exome sequencing has uncovered the genetic basis
of KS. Prior to 2013, there was no molecular genetic information about KS in
Korean patients. More recently, direct Sanger sequencing and exome sequencing
revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean
patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected
owing to the strict criteria used to establish a clinical diagnosis. Increased
awareness and understanding of KS among clinicians is important for diagnosis and
management of KS and for primary care of KS patients. Because mutation detection
rates rely on the accuracy of the clinical diagnosis and the inclusion or
exclusion of atypical cases, recognition of KS will facilitate the identification
of novel mutations. A brief review of KS is provided, highlighting the clinical
and genetic characteristics of patients with KS.