PMC9263211_01
Left: CADD versus minor allele frequency (MAF) plot of all known NEHJ1 sequence variants visualized by PopViz. The horizontal axis shows the MAF scores and the vertical axis the CADD ones. The specific types of the various sequence variants, which were collected from the gnomAD r2.0.2 database (), are color-coded, and the pathogenic variant of our patient is indicated by the black arrow. Right: The patient's homozygous NEHJ1 gene pathogenic variant (NM_024782.2:c.236T>C, p.Leu79Pro) was inherited from his heterozygous parents.
fimmu-13-869047-g001.jpg
PMC9263211_03_fimmu-13-869047-g001.jpg
f1
The pathogenic variant had a CADD v.1.3 ("combined annotation dependent depletion") score of 31 and was thus classified as being intolerable ( Figure 1 , left). Segregation analysis confirmed the heterozygous carrier status of both parents ( Figure 1 , right).
PMC9263211_02
Left: CADD versus minor allele frequency (MAF) plot of all known NEHJ1 sequence variants visualized by PopViz. The horizontal axis shows the MAF scores and the vertical axis the CADD ones. The specific types of the various sequence variants, which were collected from the gnomAD r2.0.2 database (), are color-coded, and the pathogenic variant of our patient is indicated by the black arrow. Right: The patient's homozygous NEHJ1 gene pathogenic variant (NM_024782.2:c.236T>C, p.Leu79Pro) was inherited from his heterozygous parents.
fimmu-13-869047-g001.jpg
PMC9263211_03_fimmu-13-869047-g001.jpg
f1
The pathogenic variant had a CADD v.1.3 ("combined annotation dependent depletion") score of 31 and was thus classified as being intolerable ( Figure 1 , left). Segregation analysis confirmed the heterozygous carrier status of both parents ( Figure 1 , right).
PMC9263211_03
Left: CADD versus minor allele frequency (MAF) plot of all known NEHJ1 sequence variants visualized by PopViz. The horizontal axis shows the MAF scores and the vertical axis the CADD ones. The specific types of the various sequence variants, which were collected from the gnomAD r2.0.2 database (), are color-coded, and the pathogenic variant of our patient is indicated by the black arrow. Right: The patient's homozygous NEHJ1 gene pathogenic variant (NM_024782.2:c.236T>C, p.Leu79Pro) was inherited from his heterozygous parents.
fimmu-13-869047-g001.jpg
PMC9263211_03_fimmu-13-869047-g001.jpg
f1
The pathogenic variant had a CADD v.1.3 ("combined annotation dependent depletion") score of 31 and was thus classified as being intolerable ( Figure 1 , left). Segregation analysis confirmed the heterozygous carrier status of both parents ( Figure 1 , right).
Array pattern of long arm of chromosome 20 showing the interstitial deletion with the following bordering coordinates: chr20:37948298-60071887 (hg19). The deletion extends over 22,124 Mb and encompasses 244 genes, a list of which is provided in the 
Supplementary Table 2
. The location of the three potentially most relevant genes, EIF6, L3MBTL1 and SGK2, are indicated with blue and red lines, respectively. The orientation and detailed structure of the two imprinted ones in the deletion are shown in the blown-up section on the bottom part of the Figure.
fimmu-13-869047-g002.jpg
PMC9263211_03_fimmu-13-869047-g002.jpg
f2
The 22,124 Mb large interstitial del(20q) encompassed nearly the entire long arm and removed 244 genes that are contained in this region ( Figure 2 ). Of the three genes that are of specific relevance in the context of an acquired del(20q), two, namely the imprinted L3MBTL1 and SGK2 genes were deleted, whereas the EIF6 gene was not ( Figure 2 ).