14 cases of Kabuki syndrome caused by KMT2D gene mutation in neonates: A case series report and literature review

doi:10.3969/j.issn.1673-5501.2021.02.011

Chinese Journal of Evidence-Based Pediatrics ›› 2021, Vol. 16 ›› Issue (2): 136-140.DOI: 10.3969/j.issn.1673-5501.2021.02.011

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14 cases of Kabuki syndrome caused by KMT2D gene mutation in neonates: A case series report and literature review

CHEN Xiaoqing^1,4, HU Liyuan^1,4, WANG Laishuan¹, CHENG Guoqiang¹, CAO Yun¹, CHEN Chao¹, WANG Huijun³, ZHOU Wenhao¹, YANG Lin²

Children's Hospital of Fudan University, Shanghai 201102, China;1 Department of Neonatology, 2 Department of Endocrinology, Genetics and Metabolism, 3 Center of Molecular Biology, 4 Co-first author

Received:2021-01-11 Revised:2021-04-14 Online:2021-04-25 Published:2021-06-04
Contact: ZHOU Wenhao, email: zhouwenhao@fudan.edu.cn;YANG Lin, email: yanglin_fudan@163.com

Abstract

Abstract: Background Kabuki syndrome (KS) is a rare multi-deformities syndrome with major clinical manifestations such as facial abnormalities, skeletal abnormalities and mental retardation. Seventy-five percent of KS is caused by KMT2D gene pathogenic variation. According to current diagnostic criteria of KS, it is difficult to make diagnosis of KS in the neonatal period of patients.Objective To propose the genetic screening indications of KS in neonatal period caused by KMT2D gene mutation.DesignCase series report.Methods We extracted clinical characteristics from patients, who were diagnosed with KS caused by KMT2D gene pathogenic variation in Children's Hospital of Fudan University and relevant literature reported from 2010 to 2020.Main outcome measures Mutation sites of KMT2D gene and clinical characteristics of patients in neonatal period.Results According to 455 cases of KS newborns caused by KMT2D gene mutation (14 cases from CHFU, 441 cases from literature), the neonatal genetic screening indications included dystonia, skeletal abnormalities, feeding difficulties, cardiac abnormalities, hypoglycemia and hearing abnormalities.Conclusion The phenotypic spectrum of children with KS caused by KMT2D mutation is different between neonates and children, and genetic screening indications of neonates should be established.

Key words: KMT2D gene, Kabuki syndrome, Neonate

CHEN Xiaoqing, HU Liyuan, WANG Laishuan, CHENG Guoqiang, CAO Yun, CHEN Chao, WANG Huijun, ZHOU Wenhao, YANG Lin. 14 cases of Kabuki syndrome caused by KMT2D gene mutation in neonates: A case series report and literature review[J]. Chinese Journal of Evidence-Based Pediatrics, 2021, 16(2): 136-140.

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14 cases of Kabuki syndrome caused by KMT2D gene mutation in neonates: A case series report and literature review

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