Journal
CLINICA CHIMICA ACTA
Volume 531, Issue -, Pages 197-203Publisher
ELSEVIER
DOI: 10.1016/j.cca.2022.04.008
Keywords
Kabuki syndrome; KMT2D mutation; Gonadal mosaicism; Haplotype construction
Categories
Funding
- National Natural Science Foundation of China [81501336]
- Science and Technology Research Project of Henan Province [212102310046]
- Opening Foundation of National Health Commission Key Laboratory of Birth Defects Prevention [ZD202006]
- Medical science and technology research project [SBGJ202003001]
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A pedigree with two daughters born with characteristic signs of Kabuki syndrome is reported. Genetic studies identified a novel de novo KMT2D variant as the cause. It is suspected that one of the parents has gonadal mosaicism. Haplotype construction and clone sequencing analysis indicated that the mother carried the pathogenic mutation.
Here we reported a pedigree that gave birth to two characteristic clinical signs of Kabuki syndrome daughters. They had an intellectual disability with special facial features. Their eyebrows were relatively wide and the rear 1/3 of the eyebrows were light and sparse. Their eyes were long, narrow, valgus and strabismus. Their noses were broad at the root and flat at the tip. They also had skeletal dysplasia, mainly manifested in the short second knuckle of the little fingers of both hands. Genetic studies showed a novel de novo KMT2D variant (c.16343G > C; p.R5448P) as a cause of Kabuki syndrome. It was very unlikely that the same de novo mutation occurred in two members of a family. Gonadal mosaicism in one of the parents was suspected. Haplotype construction and clone sequencing were used for mutation source analysis. Finally, we inferred that the haplotype from the mother (Gdel-G-C-T-A) contained the pathogenic mutation. A gonadal mosaicism novel KMT2D mutation was identified in their mother.
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