Table 1.
Clinical information of cases with KMT2E mutations in our study.
| Case | Sex, age | Variant | Consequence | Epilepsy | ID | Other features |
|---|---|---|---|---|---|---|
| O'Donell-Luria et al. case 1 | Male, 11 y | c.167delA, (p.Tyr56Serfs*34) | Frameshift | No | Mild | Autism |
| O'Donell-Luria et al. case 2 | Female, 12 y | c.280delA, (p.Thr94Leufs*25) | Frameshift | No | Moderate | Delay;Macrocephaly |
| O'Donell-Luria et al. case 3 | Male, 9 y, 6 m | c.450dupT, (p.Arg151*) | Non-sense | NA | NA | Autism; Delay |
| O'Donell-Luria et al. case 4 | Male, 7 y | c.450dupT, (p.Arg151*) | Non-sense | NA | NA | Autism; Delay |
| O'Donell-Luria et al. case 5 | Male, 6 y | c.450dupT, (p.Arg151*) | Non-sense | NA | NA | Autism; Delay |
| O'Donell-Luria et al. case 6 | Male, 5 y, 9 m | c.556+1G>A | Essential splice site | Yes | NA | Delay |
| O'Donell-Luria et al. case 7 | Male, 12 y, 2 m | c.997delG, (p.Glu333Argfs*32) | frameshift | No | NA | Delay Macrocephaly |
| O'Donell-Luria et al. case 8 | Male, 3 y, 1 m | c.1130+2T>C | Essential splice site | No | Yes | Delay Macrocephaly |
| O'Donell-Luria et al. case 9 | Female, 21 y | c.1239delC (p.Asn414Metfs*4) | frameshift, | yes | moderate | Delay; Macrocephaly |
| O'Donell-Luria et al. case 10 | Female, 8 y | c.1603delC (p.Leu535Tyrfs*15) | Frameshift | NA | NA | Delay;Macrocephaly |
| O'Donell-Luria et al. case 11 | Male, 11 y, 4 m | c.1776_1780delAAAGA, (p.Lys593Argfs*17) | Frameshift | No | Yes | Delay; Macrocephaly |
| O'Donell-Luria et al. case 12 | Female, 3 y, 6 m | c.1776_1780delAAAGA, (p.Lys593Argfs*17) | Frameshift | Yes | Yes | Delay |
| O'Donell-Luria et al. case 13 | Female, 1 y, 10 m | c.1812delG, (p.Ile605Serfs*41) | Frameshift | No | NA | Autism: NA; Delay |
| O'Donell-Luria et al. case 14 | Male, 3 y, 7 m | c.2261delC, (p.Ser754*) | Non-sense | No | Low-normal | Delay |
| O'Donell-Luria et al. case 15 | Male, 4 y, 3 m | c.2452C>T, (p.Arg818*) | Non-sense | No | Mild | Delay |
| O'Donell-Luria et al. case 16 | Male, 8 y | c.2602_2605delACTA, (p.Thr868Hisfs*3) | Frameshift | No | NA | Autism Delay |
| O'Donell-Luria et al. case 17 | Male, 1 y, 7 m | c.2620C>T, (p.Arg874*) | Non-sense | No | NA | Delay |
| O'Donell-Luria et al. case 18 | Female, 3 y, 6 m | c.2936delT, (p.Leu979Trpfs*9) | Frameshift, | No | NA | Delay Macrocephaly |
| O'Donell-Luria et al. case 19 | Male, 4 y, 8 m | c.3070C>T, (p.Gln1024*) | Non-sense | No | NA | Macrocephaly |
| O'Donell-Luria et al. case 20 | Male, 12 y | c.3198delC, (p.Trp1067Glyfs*2) | Frameshift, | No | Mild | Autism Delay: NA Macrocephaly |
| O'Donell-Luria et al. case 21 | Female, 6 y, 5 m | c.3198_3234del, (p.Trp1067Glnfs*2) | Frameshift | No | Mild | Macrocephaly; Delay |
| O'Donell-Luria et al. case 22 | Male, 5 y, 10 m | c.3494_3495delGA, (p.Arg1165Thrfs*3) | Frameshift | No | NA | Macrocephaly; Delay |
| O'Donell-Luria et al. case 23 | Male, NA | c.3527_3530delCAGA, (p.Thr1176Argfs*16) | Frameshift | No | NA | Macrocephaly: NA Delay::NA Autism |
| O'Donell-Luria et al. case 24 | Female, 9 y | c.3554C>G, (p.Ser1185*) | Non-sense | Yes | Mild | Delay |
| O'Donell-Luria et al. case 25 | Male, 6 y | c.3672_3673delTA, (p.Tyr1224*) | Frameshift | No | NA | Delay |
| O'Donell-Luria et al. case 26 | Male, 5 y | c.4397_4398ins19, (p.Pro1467Thrfs*75) | Frameshift, last exon | No | Mild | Macrocephaly; Delay |
| O'Donell-Luria et al. case 27 | Male, 12 y, 10 m | c.4485_4486delTC, (p.Gln1496Lysfs*39) | Frameshift, last exon | No | Mild | Macrocephaly; Delay |
| O'Donell-Luria et al. case 28 | Male, 6 y, 7 m | c.4829dupT, (p.Leu1610Phefs*259) | Frameshift, protein extension | No | Low-normal | Autism:NA Delay:NA Macrocephaly |
| O'Donell-Luria et al. case 29 | Male, 8 y, 8 m | c.4872dupC, (p.Val1625Argfs*244) | Frameshift, protein extension | No | Yes | Macrocephaly; Delay |
| O'Donell-Luria et al. case 30 | Male, 24 y | c.5453_5460delTGGCCCTG(p.Val1818Alafs*48) | Frameshift, protein extension | NO | Moderate | Delay:NA Macrocephaly: relative |
| O'Donell-Luria et al. case 31 | Female, 12 y, 11 m | 7:103354482-105407628x1, 2.05 Mb | Microdeletion | No | Moderate | Autism Delay Macrocephaly |
| O'Donell-Luria et al. case 32 | Female, 18 y | 7:104678742-104730547x1, 0.052 Mb | Microdeletion | Yes | Moderate | Delay |
| O'Donell-Luria et al. case 33 | Male, 22 y | 7:103679146-105547471x1, 1.87 Mb | Microdeletion | Yes | Mild/moderate | Delay |
| O'Donell-Luria et al. case 34 | Male, 7 y | 7:104099959-107002808x1, 2.9 Mb | Microdeletion | Yes | Mild | Delay Macrocephaly |
| O'Donell-Luria et al. case 35 | Male, 16 y, 3 m | c.418G>A (p.Val140Ile) | Missense | Yes | NA | Delay Autism Macrocephaly: NA |
| O'Donell-Luria et al. case 36 | Male, 2 y, 5 m | c.850T>C (p.Tyr284His) | Missense | Yes | Severe | Delay Autism: NA |
| O'Donell-Luria et al. case 37 | Female, 2 y, 11 m | c.2720A>T (p.Asp907Val) | Missense | Yes | Severe | Delay Macrocephaly: microcephaly |
| O'Donell-Luria et al. case 38 | Female, 36 y | c.4126C>T (p.Pro1376Ser) | Missense | Yes | Mild | Delay Macrocephaly: microcephaly |
| Sharawat et al. case 39 | Female, 4 y | chr7:g.104751268C > A (p.Pro1341Thr >C) | Missense | No | Mild | Delay, subtle facial dysmorphism, central hypotonia, intermittent choreoathetoid, oculogyric movements, microcephaly |
| Sharawat et al. case 40 | Male, 5 y | chr7:g.104747968G > C (p.Asp1022His) | Missense | Yes | Mild | Delay, autistic, microcephaly, subtle facial dysmorphism |
| Conforti et al. case 41 | Male, 54 y | p.Asn183LysfsTer33 (c.549del) | Deletion | Yes | Mild | Arterial hypertension, global cognitive, deficiency, impaired memory and executive domain, along with apathy and depressive symptoms |
| Conforti et al. case 42 | Female, 24 y | p.Asn183LysfsTer33 (c.549del) | Deletion | Yes | Mild | Macrocrania, amnesic, attentive, visuospatial abilities disorders, and depressive symptoms |
| Conforti et al. case 43 | Male, 19 y | p.Asn183LysfsTer33 (c.549del) | Deletion | Yes | Severe | dysmorphic craniofacial features (large forehead, telecanthus, periorbital fullness, and maxillary protrusion), bilateral congenital clubfoot, spinal scoliosis, cryptorchidism, cerebellar ataxia |
| Our patient 1: 44 | Female, 1 | c.5417C>T p.Pro1806Leu |
Missense | Focal or generalized tonic-clonic seizures, drug resistance | Profound | Global development delay, Microcephaly, dystonia, cafe au lait spot |
| Our patient 2: 45 | Male, 4 | c.186G>A, p.Ala62= | Essential splice site | Generalized tonic-clonic seizures | Mild | Global development delay, autism |
ID, intellectual disability; NA, not available.