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