Table 2 Genetic information of the KLEFS patients in our study
From: Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome
Patient ID | Gene of variant | Gender | Age (month) | Type of variant | Nucleotide change | Protein change | Exon | Inheritance |
|---|---|---|---|---|---|---|---|---|
P1 | EHMT1 | Male | 11 | Splice site | c.2382 + 1G > T | / | Exon15 | De novo |
P2 | EHMT1 | Female | 10 | Missense | c.2426 C > T | Pro809Leu | Exon16 | De novo |
P3 | EHMT1 | Female | 6 | CNV(0.17 Mb) | 9q34.3 140,562,016–140,730.115 loss | / | Exon2-25 | De novo |
P4 | KMT2C | Male | 11 | Nonsense | c.568 C > T | Arg190Ter | Exon4 | De novo |