Akademik Veri Yönetim Sistemi
EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.78, 2025 (SCI-Expanded, Scopus)
Kabuki syndrome (KS, #147920) is a rare genetic disorder characterized by postnatal growth deficiency, hypotonia, typical facial features, microcephaly, persistence of fetal fingertip pads, and intellectual disability. It is caused by variants in KMT2D and KDM6A, which encode proteins that regulate gene expression during embryogenesis and growth through histone methylation. This study reports 13 KS patients exhibiting distinct phenotypic features and 13 KMT2D variants, three of which were novel. All the patients exhibited a characteristic facial appearance and prominent fetal pads. Cardiac defects and ophthalmologic findings were present in 11 patients (84 %), renal anomalies in seven (54 %), and hearing loss in six (46 %). Intellectual disability was observed in 11 of 12 patients (91 %). One patient had pilomatricoma and another had ganglioneuroblastoma. In all patients, a diagnosis of Kabuki syndrome was considered based on the characteristic facial and clinical features. Molecular diagnosis was confirmed through KMT2D and KDM6A sequencing and whole exome analysis. This study aimed to describe the clinical and molecular characteristics of KS patients, expand the known KMT2D mutation spectrum, and contribute new clinical and molecular data to the literature. Accurate diagnosis is essential for improving clinical awareness, guiding patient management, and providing genetic counseling to affected families.