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Table 1 Clinical and molecular summary of CNKSR2-related neurodevelopmental and epilepsy disorder

From: CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

Family Age (years) Age of seizure onset Intellectual disability? Maternal origin? Varianta Source
1 8 4y Yc N c.2349T>G, p.(Tyr783*) This study
2 21 15mb Y Y c.1537C > T, p.(Pro513Ser)e This study
3 5 2y Yc N c.1988_1989del, p.(Arg663Asnfs*2) This study
4 10 6m Y N c.1653_1656del, p.(Asn551Lysfs*4) This study
5 9 4y N → Yd Y c.2545C > T, p.(Arg849*) This study
6 8 7d Yc N c.2145 + 1G > A This study
7 9 8m Yc Y arr [hg19] Xp22.12 (21,278,397–21,678,707) × 0 This study
8 7 2y Y N c.1198C > T, p.(Arg400*) This study
9 9 4d Yc N c.2044 + 2 T > A This study
10 5 2y Yc N c.520-1G > A This study
11 11 23m Y N c.2005del, p.(Ala669Glnfs*48) This study
12 3 2y Yc N c.1905-2A > G This study
13 8 2y Yc N c.2026_2027del, p.(Arg676Aspfs*2) This study
14 7 2y Y Y arr [hg19] Xp22.12 (21,322,029–21,678,137) × 0 Aypar et al. [1]
15 5 2.5y Y Y arr [hg19] Xp22.12 (21,375,312–21,609,484 × 0 Houge et al. [7], Vaags et al. [17] pt 3
16 6 2y Yc Y arr [hg19] Xp22.12 (20,297,696–21,471,387) × 0 Vaags et al. [17] pt 1
8 27m Yc Y   Vaags et al. [17] pt 2
17 12 8d Yc Y arr [hg19] Xp22.12 (21,193,947–21,707,169) × 0 Vaags et al. [17] pt 4
13 N/A Yc Y   Vaags et al. [17] pt 5
18 56 ?b Yc Y g.21458832_21458833ins, p.(Asp152Argfs*8) Vaags et al. [17] pt 6, Hu et al. [8], family P180
58 ?b Yc Y   Vaags et al. [17] pt 7, Hu et al. [8], family P180
62 ?b Yc Y   Vaags et al. [17] pt 8, Hu et al. [8], family P180
19 18 3.5y Yc Y c.2341C > T, p.(Arg712*) Damiano et al. [5]
12 3.5y Y Y   Damiano et al. [5] brother
? 3.5yb Y ?   Damiano et al. [5] maternal unclef
20 9 2y Y N c.2185C > T, p.(Arg729*) Sun et al. [15]
21 6 2y Y N c.2024_2027del, p.(Glu657Glyfs*41) Bonardi et al. [2] pt 1
22 21 3yb N → Yd N c.246_247del, p.(Thr83Lysfs*30) Bonardi et al. [2] pt 2
23 12 4y Yc Y (mosaic) c.457_461del, p.(Tyr153Serfs*5) Bonardi et al. [2] pt 3
24 10 3y Yc N arr [hg19] Xp22.12 (21,609,392–21,619,786) × 0 Bonardi et al. [2] pt 5
25 5 4y Y Y arr [hg19] Xp22.12 (21,606,698–21,616,207) × 0 Daoqi et al. [6]
“Younger” 3y Y Y   Daoqi et al. [6] brother
26 6 N/A Y Y c.1904 + 1G > A Zhang et al. [20]
Females       
  – N/A N ? c.1537C > T, p.(Pro513Ser) Mother in family 2
  – N/A N ? c.2545C > T, p.(Arg849*) Mother in family 5
  – N/A N ? arr [hg19] Xp22.12 (21,278,397–21,678,707) × 1 Mother in family 7
  – N/A N ? arr [hg19] Xp22.12 (21,322,029–21,678,137) × 1 Mother in family 14
  – N/A N N arr [hg19] Xp22.12 (21,375,312–21,609,484) × 1 Mother in family 15
  – N/A N ? arr [hg19] Xp22.12 (20,297,696–21,471,387) × 1 Mother in family 16
  16 6y Y Y c.2341C > T, p.(Arg712*) Sister in family 19
? febrile N N Mother in family 19
27 7 5y Y N c.2304G > A, (p.Trp768*) Polla et al. [14]
28 41 6yb N → Yd ? arr [hg19] Xp22.12 (21,523,673–21,558,329) × 1 Bonardi et al. [2], Lesca et al. [9] pt 4
  ? Junior high Y N arr [hg19] Xp22.12 (21,606,698–21,616,207) × 1 Mother in family 25
  33 N/A ? N c.1904 + 1G > A Mother in family 26
  1. d Days, m months, y years, N/A not applicable, pt patient
  2. aIn this cohort, transcript NM_014927 (GRCh37p13) confirmed for families 1, 2, 4, 5, 6, 7, 8, 11, 12, 13
  3. bSeizures stopped in pre-teen years
  4. cMinimal-to-no speech
  5. dDevelopmental delay manifested after onset of seizures
  6. eClassified by laboratory as variant of uncertain significance
  7. fNot tested for familial CNKSR2 pathogenic variant, but neurological and seizure phenotype matches that seen in the proband
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BMC Medical Genomics

ISSN: 1755-8794

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