Table 1: Clinical exome sequencing report of Case1 and Case 2 and chorionic villous sampling of third conceptus.
|
|
Gene Transcript |
Location |
Variant |
Zygosity |
Disease (OMIM) |
Inheritance |
Classification |
|
Case1 |
GAMT (-) (ENST00000447102) |
Exon 5 |
c.506G > A (p.C169Y) |
Homozygous |
Cerebral creatine deficiency syndrome-2 |
Autosomal recessive |
Pathogenic |
|
Case 2 |
GAMT (-) (ENST00000447102) |
Exon 5 |
c.506G > A (p.C169Y) |
Homozygous |
Cerebral creatine deficiency syndrome-2 |
Autosomal recessive |
Pathogenic |
|
Chorionic Villus Sampling |
GAMT (-) (ENST00000447102) |
Exon 5 |
c.506G > A (p.C169Y) |
Heterozygous |
Cerebral creatine deficiency syndrome-2 |
Autosomal recessive |
Unaffected (heterozygous) |