Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Table 1 DYRK1A variant information for UW-SNV mutation patients

Patient	Position	Type of mutation	cDNA	Protein	Inheritance
1	21:38865466	Splice site	c.1098+1G>A	–	De novo
2	21:38845116	Frameshift	c.143_144delTA	p.Ile48Lysfs*2	De novo
3	21:38877833	Frameshift	c.1491delC	p.Ala498Profs*61	De novo
4	21:38868533	Frameshift	c.1217_1220delAGAA	p.Lys406Argfs*44	De novo
5	21:38862575	Nonsense	c.763C>T	p.Arg255*	De novo
6	21:38877746	Frameshift	c.1401delAinsGG	p.Ile468Aspfs*17	De novo
7	21:38853064	Frameshift	c.452dupA	p.Asn151Lysfs*12	Not maternal
8	21:38862695	Missense	c.883C>T	p.Leu295Phe	De novo
9	21:38862463	Splice site	c.665-8_665-3delTCTTTC	–	De novo
10	21:38877590	Frameshift	c.1248delA	p.Lys416Asnfs*35	De novo

Variant information for UW-SNV patients using NCBI reference sequence for DYRK1A isoform NM_101395.2, GRCh37 (hg19) build version (Ensembl id: ENST00000338785). This isoform was selected because it was the highest expressing isoform in human tissues in the GTEx database [https://gtexportal.org/home/gene/DYRK1A]) [53]. Patients 1–3 were first identified through the Simons Simplex Collection, patients 4–10 underwent clinical genetic testing prior to research participation. cDNA and protein (NP_567824.1) annotation follows HGVS guidelines

ISSN: 2040-2392