Human Disease Model Report: Boucher-Neuhauser syndrome

General Information

Name

Boucher-Neuhauser syndrome

FlyBase ID

FBhh0000388

Disease Ontology Term

Boucher-Neuhauser syndrome

Parent Disease

OMIM

BOUCHER-NEUHAUSER SYNDROME; BNHS

Overview

This report describes Boucher-Neuhauser syndrome (BNHS), which is among several neurological disorders caused by mutations in PNPLA6, a transmembrane protein that deacetylates intracellular phosphatidylcholine. BNHS exhibits autosomal recessive inheritance. 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 number of variants implicated in (or postulated to be implicated in) Boucher-Neuhauser syndrome have been characterized in flies. Variant(s) implicated in human disease tested (as transgenic human gene, PNPLA6): R1147C (R1099C) (designated Hsap\PNPLA6^F2M2.UAS); S1175C (S1127C) (designated Hsap\PNPLA6^F1M.UAS); D424 (D376) frameshift (designated Hsap\PNPLA6^F2M1.UAS); G578W (G530W); and R1099Q (R1051Q) variants have been introduced into flies.

See also the report for neurodegenerative disease, PNPLA6-related (FBhh0000368), for additional information on experimental results using Drosophila models of this and related diseases.

[updated Mar. 2020 by FlyBase; FBrf0222196]

Disease Summary Information

Disease Summary: Boucher-Neuhauser syndrome

OMIM report

[BOUCHER-NEUHAUSER SYNDROME; BNHS](https://omim.org/entry/215470)

Human gene(s) implicated

[PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6](https://omim.org/entry/603197)

Symptoms and phenotype

Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. [from MIM:215470; 2016.08.27]

(OMIM, 2013-)

Genetics

Boucher-Neuhauser syndrome (BNHS) is caused by homozygous or compound heterozygous mutation in the PNPLA6 gene. [from MIM:215470; 2016.08.27]

(OMIM, 2013-)

Cellular phenotype and pathology

Molecular information

External links