Fetal hydrops

Gene: CTSA

Green List (high evidence)

CTSA (cathepsin A)
EnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 12 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Rated as green, and mode of inheritance complete.
Created: 19 Dec 2016, 3:02 p.m.
Comment on list classification: Updated rating from Grey to Green: 1 Green expert review (from gene submitter). Confirmed DD gene for Galactosialidosis (OMIM:256540). Focused on the early infantile form of Galactosialidosis when examining variants because it is the early infantile form that is associated with Fetal hydrops. Four CTSA (PPCA) variants from >3 patients reported in the literature (PMID:8968752 and PMID:9636645).
Created: 19 Dec 2016, 2:13 p.m.
PMID:8968752 (Zhou et al., 1996) report mutations in the CTSA (also called PPCA) gene of eight clinically different patients with Galactosialidosis, including two early infantile patients. In the two early infantile patients, who died in infancy, they identified three novel point mutations (V104M, L208P, G411S) that prevent phosphorylation of the CTSA (PPCA) precursor.
Created: 19 Dec 2016, 2:08 p.m.
PMID:9636645 (Itoh et al., 1998) report patients in a Japanese family with the severe early-infantile form of galactosialidosis who were homozygous for the A1184-G transition in the CTSA (PPCA) gene in both alleles, which leads to the Y395C substitution. Other sources report that early-infantile forms of galactosialidosis present with fetal hydrops.
Created: 19 Dec 2016, 2:07 p.m.
CTSA is a confirmed DD gene for Galactosialidosis (OMIM:256540).
Created: 19 Dec 2016, 12:05 p.m.
PMID:7759227 (Landau et al., 1995) added galactosialidosis (OMIM:256540) to the list of conditions that can cause nonimmune hydrops fetalis. Four pregnancies of a 22-year-old Bedouin woman produced fetuses with Fetal hydrops.The father was a first cousin.
Created: 19 Dec 2016, 12:02 p.m.

Liona Poon (The Chinese University of Hong Kong)

Green List (high evidence)

A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in protective protein/cathepsin A.
The early infantile form is associated with fetal hydrops, edema, ascites.
Created: 16 Dec 2016, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosialidosis

Publications

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CTSA were set to 7759227; 19466716; 8968752

19 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CTSA were set to Galactosialidosis, 256540

16 Dec 2016, Gel status: 0

Created

Liona Poon (The Chinese University of Hong Kong)

CTSA was created by cylpoon

16 Dec 2016, Gel status: 0

Added New Source

Liona Poon (The Chinese University of Hong Kong)

CTSA was added to Fetal hydropspanel. Sources: Literature