ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
ABHD16A
hereditary spastic paraplegia
intellectual disability
lysophosphatidylserine
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
07 10 2021
07 10 2021
Historique:
received:
22
07
2021
accepted:
08
09
2021
pubmed:
30
9
2021
medline:
16
11
2021
entrez:
29
9
2021
Statut:
ppublish
Résumé
ABHD16A (abhydrolase domain-containing protein 16A, phospholipase) encodes the major phosphatidylserine (PS) lipase in the brain. PS lipase synthesizes lysophosphatidylserine, an important signaling lipid that functions in the mammalian central nervous system. ABHD16A has not yet been associated with a human disease. In this report, we present a cohort of 11 affected individuals from six unrelated families with a complicated form of hereditary spastic paraplegia (HSP) who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls. Our findings add ABHD16A to the growing list of lipid genes in which dysregulation can cause complicated forms of HSP and begin to describe the molecular etiology of this condition.
Identifiants
pubmed: 34587489
pii: S0002-9297(21)00341-4
doi: 10.1016/j.ajhg.2021.09.005
pmc: PMC8546048
pii:
doi:
Substances chimiques
ABHD16A protein, human
EC 3.1.1.23
Monoacylglycerol Lipases
EC 3.1.1.23
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2017-2023Subventions
Organisme : NHGRI NIH HHS
ID : R01 HG009141
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008900
Pays : United States
Organisme : CIHR
ID : MFE-176616
Pays : Canada
Organisme : CIHR
ID : FDN-154279
Pays : Canada
Informations de copyright
Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests The authors declare no competing interests.
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