Table 3: Clinical exome sequencing report of Case 4, father and mother of Case 4 and chorionic villous sampling of subsequent conceptus.
|
Gene Transcript |
Location |
Variant |
Zygosity |
Disease (OMIM) |
Inheritance |
Classification |
Case4 |
AP4B1(-) (ENST00000369569) |
Intron 1 |
c.114-2 > G (3"-splice site) |
Homozygous |
Spastic Paraplegia-47 |
Autosomal recessive |
Pathogenic |
Father of case 4 |
AP4B1(-) (ENST00000369569) |
Intron 1 |
c.114-2 > G (3"-splice site) |
Homozygous |
Spastic Paraplegia-47 |
Autosomal recessive |
Unaffected (Heterozygous) |
Mother of case 4 |
AP4B1(-) (ENST00000369569) |
Intron 1 |
c.114-2 > G (3"-splice site) |
Homozygous |
Spastic Paraplegia-47 |
Autosomal recessive |
Unaffected (Heterozygous) |
Chorionic Villus Sampling of subsequent conceptus |
AP4B1(-) (ENST00000369569) |
Intron 1 |
c.114-2 > G (3"-splice site) |
Homozygous |
Spastic Paraplegia-47 |
Autosomal recessive |
Pathogenic |