Table 2 (a) Monogenic findings (including single nucleotide variations and intragenic deletions), n = 35; (b) Copy number variants (CNVs) and aneuploidies, n = 9 (Genetic diagnoses n = 44).
From: Childhood motor speech disorders: who to prioritise for genetic testing
(a) | ||||||
|---|---|---|---|---|---|---|
ID | Gene | Variant (GRCh38/hg38) | Chr | Inheritance | ACMG Class | Type |
1 | ADGRL1 | g.(?_14150873)_(14152912_?)del | 19 | Maternal | 4 | Intragenic deletion exon 19-23 |
2 | ANK2 | c.9539_9545delinsTGGATGATGAG; p.(Asp3180Valfs*7) | 4 | Paternal | 5 | Frameshift |
3 | BPTF | c.3157_3158delAA; p.(Lys1053Glufs*12) | 17 | De novo | 5 | Frameshift |
4 | CACNA1A | c.3829 C > T; p.(Arg1277*) | 19 | Paternal | 5 | Nonsense |
5 | CACNA1A | c.492 C > G; p.(Tyr164*) | 19 | Maternal | 5 | Nonsense |
6 | CACNA1A | c.592 C > T; p.(Arg198*) | 19 | Maternal | 5 | Nonsense |
7 | CAMK2A | c.635 C > T; p.(Pro212Leu) | 5 | De novo | 5 | Missense |
8 | CAMTA1 | c.2072_2075del; p.(Thr691Argfs*35) | 1 | De novo | 5 | Frameshift |
9 | CUX1 | g.102070411_102114170del | 7 | Unknown | 4 | Intragenic deletion exon 4-7 |
10 | EBF3 | c.708_710delCAA; p.(Asn237del) | 10 | De novo | 5 | Deletion |
11 | EHMT1 | c.3229 C > T; p.Gln1077* | 9 | Unknown | 5 | Nonsense |
12 | EHMT1 | c.2842 C > T; p.(Arg948Trp) | 9 | De novo | 5 | Missense |
13 | FBXW7 | c.1919delG; p.(Ser640Thrfs*7) | 4 | Unknown | 4 | Frameshift |
14 | FOXP1 | c.1426 C > T; p.(Gln476*) | 3 | Unknown | 4 | Nonsense |
15 | GNAI1 | c.518 A > T; p.(Asp173Val) | 7 | De novo | 4 | Missense |
16 | KCND3 | c.983 T > G; p.(Leu328Arg) | 1 | De novo | 4 | Missense |
17 | KDM5C | c.1178 C > T; p.(Thr393Ile) | X | De novo | 4 | Missense |
18 | NSD1 | c.4972_4974delTTG; p.(Leu1658del) | 5 | De novo | 4 | Deletion |
19 | PPP2R5D | c.751 G > T; p.(Asp251Tyr) | 6 | De novo | 5 | Missense |
20 | RAF1 | c.1423 T > C; p.(Phe475Leu) | 3 | De novo | 5 | Missense |
21 | SCN8A | c.417 G > A; p.(Met139Ile) | 12 | De novo | 5 | Missense |
22 | SET | c.103_104del; p.(Ile35*) | 9 | De novo | 4 | Nonsense |
23 | SETBP1 | c.623del; p.(Pro208Glnfs*135) | 18 | De novo | 5 | Frameshift |
24 | SETBP1 | c.2087dupC; p.(Glu697Argfs*10) | 18 | De novo | 5 | Frameshift |
25 | SETD1A | c.273del; p.(Pro92Hisfs*2) | 16 | De novo | 5 | Frameshift |
26 | SETD2 | c.6284dup; p.(Asp2096Argfs*2) | 3 | De novo | 5 | Frameshift |
27 | SETD5 | c.2347-7 A > G | 3 | De novo | 5 | Splicing |
28 | SLC6A1 | c.1097_1098delinsCT; p.(Leu366Pro) | 3 | De novo | 4 | Missense |
29 | SLC6A8 | c.257 G > A; p.(Gly86Asp) | X | De novo | 4 | Missense |
30 | SMARCA2 | c.3484 C > T; p.(Arg1162Cys) | 9 | De novo | 5 | Missense |
31 | SMARCA2 | c.2870 A > G; p.(Gln957Arg) | 9 | De novo | 4 | Missense |
32 | SPTBN1 | c.1429 C > T; p.(Arg477Cys) | 2 | De novo | 4 | Missense |
33 | SRRM2 | g.2707830_2757509del | 16 | De novo | 5 | Intragenic deletion of exon 1,2 and part of 3 |
34 | TAB2 | c.363_364insGTTA; p.(Phe122Valfs*18) | 6 | Maternal | 5 | Frameshift |
35 | TRIM8 | c.1357 C > T; p.(Gln453*) | 10 | De novo | 5 | Nonsense |
(b) | |||
|---|---|---|---|
ID | Genetic finding | Molecular karyotype (GRCh38/hg38) | Inheritance |
36 | 1q21.1q21.2 dup | 1q21.1-21.2(chr1:146891138-148353326)x3 | Paternal |
37 | 15q13.2q13.3 del | 15q13.2-13.3(chr15:30648301-32222899)x1 | Unknown |
38 | 16p12.2 del | 16p12.2(chr16:21945136-22403142)x1 | Paternal |
39 | 17q12 dup | 17q12(chr17:36459737-37889808)x3 | Maternal |
40 | 22q11.21 del | 22q11.21(chr22:18890274-20324123)x1 | De novo |
41 | 22q11.21q11.22 dup | 22q11.21-11.22(chr22:21450614-22457038)x3 | De novo |
42 | 47,XXX | (chrX)x3 | De novo |
43 | 48, XXYY | (chrX)x2, (chrY)x2 | De novo |
44 | 48, XYYY | (chrX)x1, (chrY)x3 | De novo |
