Table 1.

FAM20A mutations in patients with NC and AI

Family	Age, years	Gender	FAM20A mutations
1	21	male	c.915–918delCTTT; p.F305fsX380
2	27	female	IVS2 + 1G>A/c.913–914delTT; p.F305fsX378
	31	male	IVS2 + 1G>A/c.913–914delTT; p.F305fsX378
3	23	male	IVS4 + 1G>C/c.1348–1349delTC; p.S450fsX469
	25	female	IVS4 + 1G>C/c.1348–1349delTC; p.S450fsX469
4	59	male	c.1475–1482dupAACCCCAC; p.L495fsX509
	64	female	c.1475–1482dupAACCCCAC; p.L495fsX509
5	12	female	c.406C>T; p.R136X
6	20	male	c.34–35delCT; p.L12fsX78
7	16	female	c.1513delA; p.I505fsX506
	22	male	c.1513delA; p.I505fsX506
8	20	male	c.1432C>T; p.R478X
9	13	male	c.518T>G; p.L173R
10	29	female	c.727C>T/c.1228–1229delGA; p.R243X/p.D410fsX414
11	19	female	c.217C>T/c.727C>T; p.R73X/p.R243X
	20	male	c.217C>T/c.727C>T; p.R73X/p.R243X
12	18	female	c.1369A>T; p.K457X
13	14	female	c.755–757delTCT/c.641–719del79bp; p.F252del/p.I214fsX259
	16	male	c.755–757delTCT/c.641–719del79bp; p.F252del/p.I214fsX259
14	21	female	IVS5 + 2T>G
15	24	male	c.907–908delAG; p.S303fsX378
	31	male	c.907–908delAG; p.S303fsX378
	37	female	c.907–908delAG; p.S303fsX378
16	17	female	c.34–35delCT/c.612delC; p.L12fsX78/p.A204fsX215
	18	female	c.34–35delCT/c.612delC; p.L12fsX78/p.A204fsX215

Mutations are described on the cDNA and predicted protein levels. Listing of one allele indicates homozygosity; two alleles indicate compound heterozygosity. Every patient had biallelic mutations involving insertions, deletions, essential splice sites, missense changes or nonsense changes.