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Table 2 Distribution of HEXA gene variations in Egyptian patients clinically suggestive of infantile TSD

From: Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum

Subjects

Exon

c.DNA position

Amino acid change

Frequency (%)

Ethnic population

References

3/13 (P1,P2,P3)

Ex13

c.1510C > T

g. 72,637,803 C > T

p.R504C (Arg504Cys)

CGC˃TGC

23

German,

French,

Algerian, & Egyptian

Akli et al. (1991)

Akli et al. (1993b)

Paw et al. (1991)

Tanaka et al. (1994)

This report

1/13 (P4)

Ex13

c.1511G > A

g. 72,637,802 G > A

p.R504H (Arg504His)

CGC˃CAC

7.7

Assyria, Lebanes, Americn, & Egyptian

Paw et al. (1990a)

This report

1/13 (P5)

Ex13

c.1495C > T

g. 72,637,818 C > T

P.R499C (Arg499Cys)

CGT˃TGT

7.7

Slavic, Irish, English, Polish, & Egyptian

Akli et al. (1993b);

Mules et al. (1992b);

Paw et al. (1990);

This report

1/13 (P6)

Ex8

c.952C > G

g. 72,641,454 C > G

p.H318D

(Hist318Asp)

CAT˃GAT

7.7

Egyptian

Novel. This report

{A different amino acid change (H318R) reported at the same codon}

1/13 (P7)

Ex8

c.920A > C

g. 72,641,486 A > C

p.E307A

(glu 307ala)

GAA˃GCA

7.7%

Egyptian

Novel. This report. A different amino acid change (E307K) reported at the same codon

1/13 (P9)

Ex5

c.484del G

g. 72,645,495 delG

p. E162Rfs*37

7.7

Egyptian

Novel. This report

11/13 TSD patients, 5/5 patients with normal Hex-A enzyme & 5/5 controls

Ex11

c.1306A > G

g.72638892A > G

p.I436V

(Ile 436 Val)

ATA˃GTA

91

Egyptian, Black American, & mixed ethnic

Mules et al. (1992b)

This report

11/13 TSD patients, 5/5 patients with normal HEXA enzyme & 5/5 controls

Ex13

c.1551A > G

g.72637795 G > A

{c.1518A > G}

p. E417 = (Glu417 =)

GAA˃GAG

{P. E506 =}

91

Egyptian,

German, & multiethnic

Paw et al. (1991);

Akli et al. (1993b); Tanaka et al. (1994);

This report

1/13 (P8)

Ex1

c.8G > C

g.72668306G > C

p.S3T

(Ser3Thr)

AGC˃ACC

7.7

Egyptian, Ashenazi J. &mixed ethnic

Cecchi et al. (2019);

This report

1/13 (P11)

Ex 1

c.6A > G

g. 72,668,308

P.T2T

ACA > ACG

 

Egyptian,

No data for the ClinVar submission

This report; a ClinVar submission