Table 1 Summary of CNV findings detected by CMA affecting candidate genes for neurodevelopmental disorders and cardiac malformation in 17q25.3
From: 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Case | Age | Sex | CMA | Size (kbp) | Gene(s) | Other tests results | Primary category (phenotype) |
|---|---|---|---|---|---|---|---|
Cases with isolated 17q25.3 region CNVs | |||||||
1 | 5y | F | arr[GRCh37] 17q25.3(78183648_78190994) × 1 | 7 | SGSH | Abnormal SGSH sequencing analysis and Heparan N sulfatase deficiency | NDD |
2 | 23y | M | arr[GRCh37] 17q25.3(80190108_80552040) × 3 pat | 362 | SLC16A3, CSNK1D, CD7, SECTM1, TEX19, UTS2R, OGFOD3, HEXD, CYBC1, NARF, FOXK2 | Normal karyotype and FMR1 test | NDD |
3 | 1.9y | F | arr[GRCh37] 17q25.3(77190712_77234523) × 1 | 44 | RBFOX3 | Normal karyotype and FMR1 test | NDD |
4 | 6y | M | arr[GRCh37] 17q25.3(78218807_78317442) × 3 pat | 99 | SLC26A11 and RNF213 | Normal karyotype and FMR1 test | EL, CM |
5 | 5 m | M | arr[GRCh37] 17q25.1q25.3(72852763_78232958) × 3 ~ 4 dn, 17q25.3(78239107_78643088) × 1 dn | 5380 | Several including SEPTIN9 and EXOC7 (17q25.1) | Normal, HRAS, GCDH gene sequencing and normal biochemical profile | CM, NDD |
6 | 1 m | F | arr[GRCh37] 17q25.3(75346425_75403493) × 3 | 57 | SEPTIN9 | NDD | |
7 | 9y | M | arr[GRCh37] 17q25.3(78976594_79215867) × 3 | 239 | BAIAP2, MIR657, MIR338, AATK, PVALEF, CEP131, TEPSIN, NDUFAF8 | Normal Organic acids | NDD |
Cases with other clinically reportable CNVs in addition of 17q25.3 region | |||||||
8 | 5.3y | M | arr[GRCh37] 2q11.2(98448884_98811103) × 3 mat, 15q11.2(22770421_23620154) × 3 pat, 17q25.1q25.3(72832054_76221428) × 3 dn | 3389 | Several including SEPTIN9 and EXOC7 (17q25.1) | 47,XY, + mar[16]/46,XY[14], FISH determined the marker to be chr17 material | EL, NDD |
9 | 3.3y | F | arr[GRCh37] 17q25.3(80976346_81041938) × 3 mat, 19q13.41(52940574_53158834) × 3 mat | 66 | B3GNTL1 and METRNL | Normal WES | EL, NDD |
10 | 9y | F | arr[GRCh37] 6q24.1(141957503_142116632) × 1 mat, 17q25.3(80864260_81007175) × 3 mat | 143 | TBCD and B3GNTL1 | Negative WES and normal biochemical profile | NDD |
11 | 6y | M | arr[GRCh37] 8q13.2(69000406_69314786) × 3, 17q25.3(78922808_79,149,972) × 3 | 227 | RPTOR, CHMP6, BAIAP2, MIR657, MIR338, AATK, PVALEF | Normal FMR1 testing | EL, NDD |
12 | 20.6y | M | arr[GRCh37] 5p15.33(1708093_1816055) × 3, 17q25.3(76203763_76330192) × 3 | 126 | AFMID, BIRC5, TMEM235 | Normal for NSD1 gene analysis, Prader willi/Angelman syndrome, and FMR1 test | EL, NDD |
13 | 11y | M | arr[GRCh37] Yq11.221q11.23(19574920_28799937) × 0, 17q25.3(80159158_80340511) × 3 | 181 | CCDC57, SLC16A3, CSNK1D, CD7, SECTM1, TEX19, UTS2R | Normal for NSD1 gene analysis, Prader willi/Angelman syndrome test | NDD, CM |
14 | 3y | M | arr[GRCh37] 5p15.33(914441_1247538) × 3, 17q25.3(78839225_81041938) × 4 | 2203 | Several genes | Normal karyotype | NDD, CM |
15 | 1y | M | arr[GRCh37] 17q25.3(80543137_80715054) × 4, 21q11.2q22.3(15006457_48097372) × 3 | 172 | FOXK2, WDR45B. RAB40B, FN3KRP, FN3K, TBCD | Trisomy 21 | Classic features of trisomy 21 |