Deafness and congenital structural abnormalities

Gene: KIAA0391

Green List (high evidence)

Comment on list classification: As there are at least four unrelated families reported with sensorineural hearing loss, this gene has been promoted to green rating on this panel.

Created: 10 Oct 2025, 4:53 p.m. | Last Modified: 10 Oct 2025, 4:53 p.m.

Panel Version: 1.34

The 'new-gene-name' tag has been added as the official gene symbol for KIAA0391 is PRORP. It is also known as MRPP3.

Created: 10 Oct 2025, 4:50 p.m. | Last Modified: 10 Oct 2025, 4:50 p.m.

Panel Version: 1.33

Comment on phenotypes: OMIM phenotype accessed on 10 October 2025.

Created: 10 Oct 2025, 4:46 p.m. | Last Modified: 10 Oct 2025, 4:46 p.m.

Panel Version: 1.33

PMID:34715011 (2021) reported four unrelated families with multisystem disease and identified with biallelic variants (either homozygous or compound heterozygous) in PRORP (KIAA0391) gene. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss (SNHL), primary ovarian insufficiency, developmental delay, and brain white matter changes. SNHL was reported in three of the four families. There is also functional evidence available from fibroblasts from affected individuals in two families.

PMID:37558808 (2023) reported three additional unrelated patients with homozygous missense PRORP variants and with pleiotropic phenotypes consistent with the previously reported cases from PMID:34715011. SNHL was reported in one these cases, while another proband did not pass neonatal hearing screening (althoughjt formal hearing test was not performed and patient died at 19 months of age).

Created: 10 Oct 2025, 4:45 p.m. | Last Modified: 10 Oct 2025, 4:45 p.m.

Panel Version: 1.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 54, OMIM:619737

Publications

• 34715011
• 37558808

Green List (high evidence)

Note this gene should be called PRORP (also known as MRPP3)

Biallelic hylomorphic missense variants in the metallonuclease domain associated with this phenotype
Sources: Literature

Created: 2 Mar 2025, 11:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sensorineural hearing loss; primary ovarian insufficiency; leukodystrophy

Publications

• PMID:34715011
• 37558808