This report describes Oliver-McFarlane syndrome (OMCS), one of several neurological disorders caused by mutations in PNPLA6, a transmembrane protein that deacetylates intracellular phosphatidylcholine. OMCS exhibits autosomal recessive inheritance. Laurence-Moon syndrome (MIM:245800) is an allelic disorder with overlapping features.
There is a single fly ortholog of PNPLA6, sws, for which classical amorphic and loss-of-function alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. Dmel\sws is also orthologous to a second human gene, PNPLA7.
Multiple UAS construct of the human Hsap\PNPLA6 gene has been introduced into flies, including wild-type and genes carrying mutational lesions. Partial heterologous rescue (functional complementation) of Dmel\sws CNS phenotypes has been demonstrated. A variant of PNPLA6 implicated in OMCS has been characterized. Variant(s) implicated in human disease tested (as transgenic human gene, PNPLA6): R1099Q (R1051Q) has been introduced into flies.
See the report for neurodegenerative disease, PNPLA6-related (FBhh0000368) for information on experimental results using Drosophila models of this and related diseases.
[updated Mar. 2020 by FlyBase; FBrf0222196]
[OLIVER-MCFARLANE SYNDROME; OMCS](https://omim.org/entry/275400)
[PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6](https://omim.org/entry/603197)
Oliver-McFarlane syndrome is a rare congenital disorder characterized by abnormally long eyelashes, severe chorioretinal atrophy, and multiple pituitary hormone deficiencies, including growth hormone, gonadotropins, and thyroid-stimulating hormone. [from MIM:275400; 2016.08.27]
Oliver-McFarlane syndrome (OMCS) is caused by compound heterozygous mutation in the PNPLA6 gene. [from MIM:275400; 2016.08.27]
Many to one (2 human to 1 Drosophila); the second orthologous gene in human is PNPLA7.
