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Page 124 Fichera et al. J Transl Genet Genom 2020;4:114-32 I http://dx.doi.org/10.20517/jtgg.2020.16

Figure 4. Overview of 1q23-q31 deletions. Alignment of the 1q deletions detected in our six cases (black bars) and literature patients (grey
bars). The screenshot spans 31.8 Mb of chromosome 1q23.3-q31.3. The yellow box indicates the three short regions of overlap (SRO)
previously defined [1,2] . The size of each SRO is indicated (see Discussion)

Case 3:
arr[GRCh37] 1q24.2q25.3(170483844x2,170500104_184283033x1,184300213x2)dn

Case 4:
arr[GRCh37] 1q24.3q31.3(172571382x2,172579926_195051375x1,195099271x2)dn

Case 5 (Subject II.1, Figure 3):
arr[GRCh37]1q24.3q25.2(172643270x2,172667560_178548677x1,178565397x2)dn

Case 6 (Subject III.4, Figure 3):
arr[GRCh37]1q24.3q25.2(172643270x2,172667560_178548677x1,178565397x2)pat

Parental origin analysis
The parent of origin was determined for three subjects, two (Cases 3 and 5) paternal and one (Case 2)
maternal [Supplementary Table 1]. The parental DNA samples of the remaining subjects (Cases 1 and 4)
were unavailable.

Whole-exome sequencing
Exome sequencing of Subject II.1 and his parents (trio analysis) did not provide a strong candidate variant
likely relevant for ASD. Taking advantage of whole-exome sequencing data on the mother, we ruled out
the possibility that the paternally inherited 1q24.3q25.2 deletion on Patient III.4 might have unmasked a
recessive allele lying on the maternal chromosome. We also explored the hypothesis that variants in genes
involved in coagulation cascade or fibronolysis could cause inherited predisposition to thrombophilia,
possibly linked to the recurrent miscarriages observed in the mother. Interestingly, while we did not
identify any candidate variants in genes already associated with thrombophilia, WES analysis demonstrated
in the mother two missense variants (NM_001061.6:c.796C > T:p.R266W and c.1279G > A:p.A427T) in