Table 3. Mutations found in families 1–4.

Family	Mutations	Protein	Reference
1	c.1143_1144 insC (homo)	p.His384Pro fs8X	[4]
2	c.201G>A (het) and c.491_492 insT (het)	p.Trp67X and p.Asn167Gln fs34X	Novel
3	c.492 delC (homo)	p.Asn167Thr fs25X	[4]
4	c.492 delC (het) and c.1622_1625 delTCTG (het)	p.Asn167Thr fs25X and p.Val541Ala fs188X	[4] and Novel

The compound heterozygous mutations found in family 2 and one of the compound heterozygous mutations in family 4 are novel.