Table 2 Gene mutations in the proband with HLCS deficiency

Gene

HLCS^A

HLCS^A

BTD^B

Exon

9

6

4

Nucleotide change

c.1522C > T

c.1006_1007delGA

c.638_642delACAAC

Amino acid change

p.Arg508Trp

p.Glu336Thrfs*15

p.His213Profs*4

Parental origin

Maternal

Paternal

Paternal

Type of change

Het

Het

Het

PROVEAN/MutationTaster prediction (score)

Deleterious(−6.559)/ Disease causing(0.99)

Deleterious(−4.224)/

Disease causing(1.0)

Deleterious(−3.927)/

Disease causing(1.0)

ExAC MAF (Allele Count)

0.00003302

(4/121122)

NA

NA

Comment

Pathogenic

Novel

Novel

References

Dupuis (1996) Hum Mol Genet 5, 1011 [13]

This study

This study