Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome
KS is characterized by distinctive facial features: arched eyebrows, eversion of the eyelids, long palpebral fissures, a short nasal septum, a flat nasal tip, auricular deformities, a small mandible, a high palatal arch, or cleft palate. The patient exhibited a heterozygous missense mutation in the coding region of the <i>KMT2D</i> gene, identified as a <i>de novo</i> mutation. Currently, KS management primarily involves symptomatic and rehabilitative therapies.
Authors
- Mengjie Lin
- Jinwei Dao
- Yushan Xu (ORCID: https://orcid.org/0009-0006-8978-1684)
- Wen‐Hsiung Li (ORCID: https://orcid.org/0000-0003-1086-1456)
- Meiwei Zhao
- J-S Dong
- Yaxian Song
- Lei Jia (ORCID: https://orcid.org/0000-0002-4876-7417)
- Lulu Chen (ORCID: https://orcid.org/0000-0001-9621-9231)
- Shihua Li (ORCID: https://orcid.org/0000-0001-9044-7137)
- Wei Yi
Institutions
- Union Hospital (HK)
- Kunming Medical University (CN)
- Zhongshan People's Hospital (CN)
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-07
- DOI
- https://doi.org/10.3389/fgene.2025.1523228
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00