Table 1.

Summary of previously described and newly identified families with homozygous variants in CDC14A.

Family ID	Variant	Sex	HL Onset	HL Severity	Male Infertility	Ethnicity	Reference
HLRB11	c.376delT p.Tyr126Ilefs*64	Male Female	Congenital	moderate-to-profound, progressive	Yes	Pakistani	Imtiaz et al. [4]
HLAI24	c.417C>G p.Tyr139Ter	Male Female	Congenital	moderate-to-profound, progressive	Yes	Pakistani	Imtiaz et al. [4]
FT1	c.935G>A p.Arg312Gln	Male Female	Congenital	moderate-to-severe, progressive	n.a.	Tunisian	Imtiaz et al. [4]
HPK1	c.839-3C>G p.?	Male	Congenital	moderate-to-profound, progressive	Yes	Pakistani	Imtiaz et al. [4]
MORL1	c.934C>G p.Arg312Gly	Male Female	Congenital	severe-to-profound, progressive	Yes	Iranian	Imtiaz et al. [4]
PKDF539	c.959A>C p.Gln320Pro	Male	Congenital	severe-to-profound, progressive	Yes	Pakistani	Imtiaz et al. [4]
Mauritanian family	c.1015C>T p.Arg339Ter	Male	Congenital	Profound	No	Mauritanian	Delmaghani et al. [3]
PKSN10	c.1033C>T p.Arg345Ter	Male Female	Congenital	moderate-to-profound, progressive	No	Pakistani	Imtiaz et al. [4]
MORL2	c.1126C>T p.Arg376Ter	Male Female	Congenital	moderate-to-profound	No	Iranian	Imtiaz et al. [4]
Iranian family	c.1126C>T p.Arg376Ter	Male Female	Congenital	severe-to-profound	No	Iranian	Delmaghani et al. [3]
Family 1	c.1421+2T>C p.Val472Leufs*20	Female	Congenital	severe-to-profound	No	Iranian	Present study
Family 2	c.1041dup p.Ser348Glnfs*2	Male	Congenital	Profound	n.a.	Pakistani	Present study

Abbreviations: n.a., not available.