Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture's syndrome by whole exome sequencing.

ABSTRACT: Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this study, a 10-month-old male was diagnosed to have KS with typical facial features, skeletal anomalies, and serious postnatal growth retardation. Whole exome sequencing of the trio family revealed the presence of a de novo KMT2D missense variant (c.15143G > A, p. R5048H). The child was presented to the pediatric emergency department several times because of cough, hypoxemia, and anemia. After performing chest CT and fiberoptic bronchoscopy, we found that the child had a pulmo

SUBMITTER: Li S 

PROVIDER: S-EPMC9459111 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature