TABLE 1.

Previously reported MBTPS2 variants and associated phenotypes

Case number	cDNA position	Protein change	Phenotype	Domain
1	c.71 T > C	p.Leu24Pro	IFAP	TM1
2	c.225–6 T > A	Extends Exon Three	IFAP
3	c.261 G > A	p.Met87Iso	IFAP	TM2
4	c.599 C > T	p.Ala200Val	KFSD	TM4
5	c.638 C > T	p.Ser213Leu	KFSD	TM4
6	c.671–9 T > G	p.Iso225Leufs*25	IFAP	TM4
7	c.671–9 T > G	p.Iso225Leufs*25	Olmsted syndrome	TM4
8	c.667 G > T	p.Trp226Leu	IFAP	TM4
9	c.680 A > T	p.His227Leu	IFAP	TM4
10	c.686 T > C	p.Phe229Ser	IFAP	TM4
11	c.758 G > C	p.Gly253Ala	IFAP	TM5
12	c.766 G > T	p.Val256Leu	Bresheck syndrome	TM5
13	c.774 C > G	p.Iso258Met	IFAP	TM5
14	c.1001 G > A	p.Cys334Tyr	IFAP	Luminal
15	c.1286 G > A	p.Arg429His	IFAP	TM6
16	c.1286 G > A	p.Arg429His	Bresheck syndrome	TM6
17	c.1298 T > C	p.Leu433Pro	IFAP	TM6
18	c.1360 G > C	p.Ala454Pro	IFAP	TM7
19	c.1376 A > G	p.Asn459Ser	Osteogenesis imperfecta	TM7
20	c.1391 T > C	p.Phe464Ser	Olmsted syndrome	TM7
21	c.1424 T > C	p.Phe475Ser	IFAP	TM7
22	c.1427 T > C	p.Leu476Ser	IFAP	TM7
23	c.1430 A > T	p.Asp477Val	IFAP	TM7
24	c.1433 C > A	p.Ala478Asp	IFAP	Luminal
25	c.1494 G > T	p.Leu498Phe	IFAP	TM8
26	c.1499 G > A	p.Gly500Asp	KFSD	TM8
27	c.1499 G > A	p.Gly500Asp	IFAP	TM8
28	c.1515 G > C	p.Leu505Phe	Osteogenesis imperfecta	TM8
29	c.1523 A > G	p.Asn508Ser	KFSD	TM8
30	c.1523 A > G	p.Asn508Ser	IFAP	TM8
31	c.1523 A > C	p.Asn508Thr	IFAP	TM8
32	c.1538 T > C	p.Leu513Pro	IFAP	TM8