原发性肉碱缺乏症KMT2D新基因变异引起的胎儿歌舞伎综合征：病例报告
Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.
摘要(中文译文)
歌舞伎综合征（KS）是一种累及多器官系统的常染色体显性遗传综合征，可由KMT2D和KDM6A基因突变引起。本文报道一例孕妇因超声发现胎儿多系统异常而接受产前家系全外显子组测序的病例。分析显示，胎儿患有两种罕见的先天性疾病：由KMT2D基因突变导致的KS 1型，以及由SLC22A5基因突变导致的原发性肉碱缺乏症，从而丰富了我们对KS产前超声表型和基因突变谱的认识。该胎儿KS病例由KMT2D基因位点c.14132_14133del的新发移码突变引起，该突变未收录于ClinVar或人类基因突变数据库（HGMD）等专业数据库。KS的产前超声表现缺乏特异性，且常规核型/微阵列分析无法检测与KS相关的致病基因。因此，KS的产前诊断仍十分困难。然而，当存在多系统异常、常规检测阴性且高度怀疑单基因疾病时，建议进行全外显子组测序。该策略可早期发现胎儿基因缺失或突变，有助于进行知情遗传咨询，并有助于降低不良妊娠结局的发生率。
Abstract
Kabuki syndrome (KS) is an autosomal dominant syndrome involving multiple organs and systems and can be caused by mutation in KMT2D and KDM6A genes. Here, we report the case of a pregnant woman who underwent prenatal family full-exon sequencing due to fetal multi-system abnormalities on ultrasound. Analysis revealed that the fetus had two rare congenital diseases: KS type 1 caused by mutation in the KMT2D and primary carnitine deficiency caused by mutation in the SLC22A5 gene, thus enriching our understanding of the prenatal ultrasound phenotype and gene mutation spectrum of KS. This case of fetal KS was caused by a novel frameshift mutation at the KMT2D gene locus c.14132_14133del which is not included in the ClinVar or Human Gene Mutation Database (HGMD) professional databases. Prenatal ultrasound findings of KS are not unique, and the pathogenic genes associated with KS cannot be detected by conventional karyotype/microarray analyses. Consequently, the prenatal diagnosis of KS remains very difficult. However, whole-exome sequencing is recommended when multiple system abnormalities are present, routine testing is negative, and there is a high suspicion of a monogenic disorder. This strategy will identify fetal gene deletion or mutation early, allow informed genetic counselling, and help reduce the incidence of adverse pregnancy outcomes.
如何引用
AMA
Qing-Bo Shen, Xin Feng, Ai-Ping Min, Hong-Mei Xu, Yan-Xia Tian, Gui-Ying Fan, et al. Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.. Journal of medical case reports. 2026; doi:10.1186/s13256-026-06316-0.
APA
Qing-Bo Shen, Xin Feng, Ai-Ping Min, Hong-Mei Xu, Yan-Xia Tian, Gui-Ying Fan, et al (2026). Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.. Journal of medical case reports. https://doi.org/10.1186/s13256-026-06316-0
GB/T 7714
Qing-Bo Shen, Xin Feng, Ai-Ping Min, Hong-Mei Xu, Yan-Xia Tian, Gui-Ying Fan, et al. Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.[J]. Journal of medical case reports, 2026 doi:10.1186/s13256-026-06316-0.
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