| Title : ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies - Lemire_2021_Am.J.Hum.Genet__ |
| Author(s) : Lemire G , Ito YA , Marshall AE , Chrestian N , Stanley V , Brady L , Tarnopolsky M , Curry CJ , Hartley T , Mears W , Derksen A , Rioux N , Laflamme N , Hutchison HT , Pais LS , Zaki MS , Sultan T , Dane AD , Gleeson JG , Vaz FM , Kernohan KD , Bernard G , Boycott KM |
| Ref : American Journal of Human Genetics , : , 2021 |
| Abstract : 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. |
| ESTHER : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedSearch : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedID: 34587489 |
| Gene_locus related to this paper: human-ABHD16A |
| Gene_locus related to this paper: human-ABHD16A |
Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD, Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM (2021)
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
American Journal of Human Genetics
:
Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD, Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM (2021)
American Journal of Human Genetics
: