. 2023 Apr 1;26(4):186–197. doi: 10.34172/aim.2023.29

Table 3. Genes with a Mutation in Two Unrelated Affected Families .

Gene	Chromosomal variants^#	OMIM phenotype	Ethnicity of the families
ADGRG1	NC_000016.9:g.57695619C > T^b	606854	Persian
ADGRG1	NC_000016.9:g.57695794G > A^a	606854	Persian
AHI1	NC_000006.11:g.135778798G > A^c	608629	Persian
AHI1	NC_000006.11:g.135769570C > T^c	608629	Persian
AIMP1	NC_000004.11:g.107258194G > C^b	260600	Persian
AIMP1	NC_000004.11:g.107252964T > G^a	260600	Persian
AK1	NC_000009.11:g.130630703C > T^a	612631	Persian
AK1	NC_000009.11:g.130634140G > A^a	612631	Arab
ALS2	NC_000002.11:g.202569196A > G^a	205100	Persian
ALS2	NC_000002.11:g.202619225C > T^a	205100	Arab
ASNS	NC_000007.13:g.97488183A > C^b	615574	Persian
ASNS	NC_000007.13:g.97498245T > C^a	615574	Persian
ATP8A2	NC_000013.10:g.26125642G > T^b	615268	Persian
ATP8A2	NC_000013.10:g.26436510G > A^b	615268	Persian
ATRX	NC_000023.10:g.76855934A > G^a	309580	Persian
ATRX	NC_000023.10:g.76875953C > G^a	309580	Persian
B3GALNT2	NC_000001.10:g.235643447G > A^a	615181	Azeri
B3GALNT2	NC_000001.10:g.235621957C > T^a	615181	Persian
CASK	NC_000023.10:g.41416344G > C^a	300422	Arab
CASK	NC_000023.10:g.41519706G > A^a	300422	Persian
CDK5RAP2	NC_000009.11:g.123201968_123201971del^b	604804	Persian
CDK5RAP2	NC_000009.11:g.123253590_123253593del^a	604804	Baluch
CEP104	NC_000001.10:g.3742330_3742331insAA^a	616781	Persian
CEP104	NC_000001.10:g.3746500dup^a	616781	Lur
DYM	NC_000018.9:g.46889551del^a	223800	Persian
DYM	NC_000018.9:g.46808420G > A^a	223800	Persian
ELP2	NC_000018.9:g.33736538G > T^c	617270	Azeri
ELP2	NC_000018.9:g.33739953A > C^c	617270	Turk
ERLIN2	NC_000008.10:g.37599315_37599677delinsCTGTG^a	611225	Azeri
ERLIN2	NC_000008.10:g.37595547G > A ^c	611225	Persian
GAMT	NC_000019.9:g.1398999del^a	612736	Persian
GAMT	NC_000019.9:g.1398999del^a	612736	Persian
GMPPA	NC_000002.11:g.220368858C > A^b	615510	Persian
GMPPA	NC_000002.11:g.220370723G > A^a	615510	Persian
IPP	NC_000001.10:g.46179920_46185014del^a	ID	Persian
IPP	NC_000001.10:g.46182687C > T^a	ID	Persian
ITGAV	NC_000002.11:g.187541960_187541962del^a	ID	Persian
ITGAV	NC_000002.11:g.187529348G > A^a	ID	Arab
MAN1B1	NC_000009.11:g.139995540C > T^c	614202	Persian
MAN1B1	NC_000009.11:g.140001735del^d	614202	Lur
NDST1	NC_000005.9:g.149922489G > T^a	616116	Persian
NDST1	NC_000005.9:g.149925029G > A^c	616116	Persian
NEURL4	NC_000017.10:g.7224505G > A^b	ID	Persian
NEURL4	NC_000017.10:g.7222392dup^a	ID	Persian
ORC1	NC_000001.10:g.52851591G > A^a	224690	Lur
ORC1	NC_000001.10:g.52850232T > C^a	224690	Turkmen
PIDD1	NC_000011.9:g.800015C > T^a	ID	Persian
PIDD1	NC_000011.9:g.799846G > A^a	ID	Persian
PRKCG	NC_000019.9:g.54394928_54396645del ^c	605361	Persian
PRKCG	NC_000019.9:g.54403866G > T^c	605361	Persian
PRRT2	NC_000016.9:g.29825024dup^a	602066	Kurd
PRRT2	NC_000016.9:g.29825015_29825016insN^c	602066	Kurd
RDH11	NC_000014.8:g.68145040dup^a	616108	Persian
RDH11	NC_000014.8:g.68159744T > C^d	616108	Persian
RNASEH2C	NC_000011.9:g.65487533G > A^b	610329	Persian
RNASEH2C	NC_000011.9:g.65487856G > A^a	610329	Baluch
RNFT2	NC_000012.11:g.117274037T > C^a	ID	Persian
RNFT2	NC_000012.11:g.117274037T > C^a	ID	Persian
SCAPER	NC_000015.9:g.77064235G > A^a	618195	Baluch
SCAPER	NC_000015.9:g.77064240_77064241insN^c	618195	Persian
SUCLA2	NC_000013.10:g.48528645G > A^b	612073	Kurd
SUCLA2	NC_000013.10:g.48562777T > G^b	612073	Azeri
SURF1	NC_000009.11:g.136219373A > G^c	220110	Turk
SURF1	NC_000009.11:g.136218979C > A^a	220110	Arab
TSEN54	NC_000017.10:g.73513639G > T^b	610204	Persian
TSEN54	NC_000017.10:g.73513639G > T^a	610204	Kurd
TTC5	NC_000014.8:g.20766998del^a	619244	Turk
TTC5	NC_000014.8:g.20774045C > T^a	619244	Baluch
TWNK	NC_000010.10:g.102748841C > A^a	616138	Persian
TWNK	NC_000010.10:g.102748841C > A^d	616138	Persian
UBE3B	NC_000012.11:g.109921396G > A^b	244450	Persian
UBE3B	NC_000012.11:g.109935697T > C^a	244450	Arab

ID, intellectual disability.

^# Based on GRCh37(hg19).

^a These families were first reported in our previous study.¹

^b These families were first reported in our previous study.⁸

^c These families were first reported in our previous study.⁹

^d Unpublished data.