Case Report: Novel compound heterozygous mutations in <i>PNPLA6</i> gene associated with Oliver-McFarlane syndrome.

ABSTRACT:

Background

Oliver-McFarlane syndrome (OMCS) is an extremely rare congenital disorder that presents with hypogonadotropic hypogonadism, long eyelashes and eyebrows, pigmentary retinopathy, peripheral nerve axon neuropathy and other associated features. It is currently known that OMCS is linked to variants in the patatin-like phospholipase domain containing 6 (PNPLA6) gene, but the specific pathogenic mechanism is still unclear.

Methods

We performed Whole exome sequencing (WES) on the proband and his parents, followed by validation of the findings through Sanger sequencing and Reverse Transcription-Polymerase Chain Reaction (RT-PCR) analysis.

Results

Sanger sequencing identified two compound heterozygous variants in the PNPLA6 (NM_006702.5) gene in the pro

SUBMITTER: Zheng J 

PROVIDER: S-EPMC12631215 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature