Kabuki syndrome caused by a new mutation of KMT2D gene: a case report

  • 杨桂花,孙艳芳,李慧源,等
Expand
  • 1. Department of Pediatrics, Zhangjiajie People's Hospital, Zhangjiajie 427000, Hunan , China; 2. Clinical Genome Center of Changsha KingMed Center for Clinical Laboratory, Changsha 410006, Hunan, China

Online published: 2020-06-12

Abstract

Objective To explore the genetic mutation in Kabuki syndrome and the correlation between genotype and phenotype. Methods The clinical data of Kabuki syndrome in one proband were collected, and the suspected Kabuki syndrome was diagnosed by high-throughput gene sequencing, biological information analysis, database screening and other methods. Results A 10-year-old boy had slow response since birth, recurrent otitis media, and special facial features (long palpebral fissure extending laterally, eversion of the lateral third of the lower eyelid, arched eyebrows with lateral 1/3 sparse eyebrows, flat nasal tip, short septum of nose, large and prominent ears, abnormal eruption and arrangement of teeth, and micrognathia). The child had abnormal renal function with progressive aggravation. Genetic analysis confirmed that there was a heterozygous variation of c.8214dupC (p.Phe2739fs) in the KMT2D gene of the child, which has not been reported in the literature. No variation was found in this locus in the parents, and it was a new mutation. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the comprehensive analysis of this variation revealed that it is consistent with "pathogenic". Conclusions High throughput sequencing and bioinformatics analysis are helpful for the diagnosis of Kabuki syndrome. A new mutation in KMT2D gene was found, which had not been reported before.

Cite this article

杨桂花,孙艳芳,李慧源,等 . Kabuki syndrome caused by a new mutation of KMT2D gene: a case report[J]. Journal of Clinical Pediatrics, 2020 , 38(6) : 467 . DOI: 10.3969/j.issn.1000-3606.2020.06.016

Outlines

/