DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

Table 1 Demographic and molecular characteristics of Phelan-McDermid cohort

Molecular cohort	ID	Age	Sex	Molecular description #
PHMDS Small Del/Mut	MS2449	14	M	NM_001372044.1(SHANK3):c.1339dup, p.(Arg447Profs*41)
PHMDS Small Del/Mut	MS2452	15	F	NM_001372044.1(SHANK3):c.4113_4114del, p.(Glu1371Aspfs*15)
PHMDS Small Del/Mut	MS2453	15	F	NM_001372044.1(SHANK3):c.4113_4114del, p.(Glu1371Aspfs*15)
PHMDS-Small Del/Mut	MS2455	19	F	NM_001372044.1(SHANK3):c.3472_3473del, p.(Gly1158Profs*212)
PHMDS-Small Del/Mut	MS2457	4	M	NM_001372044.1(SHANK3_v001):c.4086_4087del, p.(Ala1363Profs*7)
PHMDS-Small Del/Mut	MS2676	10	M	Deletion size 0.013 Mb (SHANK3 deletion)
PHMDS-Small Del/Mut	MS2675	10	M	Deletion size 0.013 Mb (SHANK3 deletion)
PHMDS Small Del/Mut	MS2450	10	F	Deletion size 0.06 Mb
PHMDS-Small Del/Mut	MS2456	18	M	Deletion size 0.68 Mb
PHMDS Small Del/Mut	MS2454	6	F	Deletion size 0.92 Mb
PHMDS-Large Del**	MS2463	3	M	Deletion size 1.95 Mb
PHMDS-Large Del**	MS2444	15	M	Deletion size 2.32 Mb
PHMDS-Large Del**	MS2443	17	F	Deletion size 2.54 Mb
PHMDS-Large Del**	MS2441	17	M	Deletion size 3.02 Mb
PHMDS-Large Del**	MS2445	3	F	Deletion size 3.46 Mb
PHMDS-Large Del**	MS2447	3	F	Deletion size 4.36 Mb
PHMDS-Large Del**	MS2442	3	F	Deletion size 4.74 Mb
PHMDS-Large Del**	MS2440	10	F	Deletion size 4.78 Mb
PHMDS-Large Del**	MS2458	8	F	Deletion size 5.16 Mb
PHMDS-Large Del**	MS2465	5	M	Deletion size 5.60 Mb
PHMDS-Large Del**	MS2462	9	M	Deletion size 5.90 Mb
PHMDS-Small Del/Mut *	MS2460	13	M	22q13 [9]/normal [21] Mosaic

PHMDS refers to individuals with > 1 Mb 22q13 deletion. PHMDS Small Del/Mut refers to individuals with small (< 1 Mb) deletions and SHANK3 mutations. The genomic build for variant descriptions is Hg19. ^#Molecular description was obtained from initial molecular/cytogenetics testing performed in this cohort at diagnosis. Detailed genomic locations of deletions are shown in Table 2. *Mosaic case with typical deletion included in the PHMDS Small Del/Mut cohort as it was not detected by epi-signature. **Samples with epi-signature

ISSN: 1868-7083