Syndromic Retinopathy

Gene: PISD

Red List (low evidence)

Retinal degeneration is reported in two families with the same homozygous variant and an apparently common ancestor, based on haplotype analysis.
Sources: Expert list

Created: 25 May 2020, 5:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liberfarb syndrome MIM#618889

Publications

• 31263216

Green List (high evidence)

4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts.

1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.

Created: 13 Dec 2019, 5:27 a.m. | Last Modified: 13 Dec 2019, 5:27 a.m.

Panel Version: 0.308

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liberfarb syndrome, MIM# 618889; Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities

Publications

• 31263216
• 30858161