Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome

被引：0

作者：

Lee, Chung-Lin ^{[1
,2
,3
,4
,5
]}

Chuang, Chih-Kuang ^{[6
,7
]}

Chen, Ming-Ren ^{[1
]}

Lin, Ju-Li ^{[8
]}

Chiu, Huei-Ching ^{[1
]}

Chang, Ya-Hui ^{[1
,3
]}

Tu, Yuan-Rong ^{[6
]}

Lo, Yun-Ting ^{[3
]}

Lin, Hsiang-Yu ^{[1
,3
,4
,5
,6
,9
]}

Lin, Shuan-Pei ^{[1
,3
,4
,6
,10
]}

机构：

[1] MacKay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan

[2] Natl Yang Ming Chiao Tung Univ, Inst Clin Med, Taipei 112304, Taiwan

[3] MacKay Mem Hosp, Dept Rare Dis Ctr, Taipei 10449, Taiwan

[4] MacKay Med Coll, Dept Med, New Taipei City 25245, Taiwan

[5] MacKay Jr Coll Med Nursing & Management, Dept Nursing, Taipei 112021, Taiwan

[6] MacKay Mem Hosp, Dept Med Res, Div Genet & Metab, Taipei 10449, Taiwan

[7] Fu Jen Catholic Univ, Dept Publ Hlth, New Taipei City 24205, Taiwan

[8] Chang Gung Mem Hosp, Chang Gung Childrens Med Ctr, Dept Pediat, Div Endocrine & Med Genet, Taoyuan 33378, Taiwan

[9] China Med Univ, China Med Univ Hosp, Dept Med Res, Taichung 40402, Taiwan

[10] Natl Taipei Univ Nursing & Hlth Sci, Dept Infant & Child Care, Taipei 11219, Taiwan

来源：

DIAGNOSTICS | 2024年 / 14卷 / 16期

关键词：

Kabuki syndrome; KMT2D; phenotypic heterogeneity; Taiwan; MLL2; KDM6A; MUTATIONS; DELETION;

D O I：

10.3390/diagnostics14161815

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were found in 22 individuals, with missense (26.1%), nonsense (21.7%), and frameshift (17.4%) variants being the most prevalent. One patient had a KMT2D variant of uncertain significance. The most common clinical characteristics included distinct facial features (100%), intellectual disability (100%), developmental delay (95.7%), speech delay (78.3%), hypotonia (69.6%), congenital heart abnormalities (69.6%), and recurrent infections (65.2%). Other abnormalities included hearing loss (39.1%), seizures (26.1%), cleft palate (26.1%), and renal anomalies (21.7%). This study broadens the mutational and phenotypic spectrum of KS in the Taiwanese population, highlighting the importance of comprehensive genetic testing and multidisciplinary clinical evaluations for diagnosis and treatment.

引用

页数：9

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