Alternative name(s) :
Gene_locus : human-PGAP1
Mutation : 9 mutations L197del_human-PGAP1 IVS9-2A>G_human-PGAP1 P92del_human-PGAP1 K308NfsX25_human-PGAP1 Y524X_human-PGAP1 Q466X_human-PGAP1 IVS13+1G>T E113Rfs_human-PGAP1 IVS10+1G>C
Comment
(from OMIM) In 2 sibs, born of consanguineous Syrian parents, with MRT42, Murakami et al. (2014) identified a homozygous mutation in the PGAP1 gene. Both had neonatal hypotonia and severely delayed psychomotor development (IQ below 35) with some stereotypic movements. One had both major and absence epilepsy. Brain CT scan of 1 patient showed pronounced brain atrophy. Lymphoblastoid cells derived from the patients showed normal expression of glycosylphosphatidylinositol (GPI)-anchored proteins, but these proteins were resistant to cleavage by PI-specific phospholipase C. These results indicated abnormal GPI structure due to a loss of PGAP1 enzyme activity early in the remodeling process of GPI-anchored proteins. Hereditary spastic paraplegias (HSPs) SPG67| Title : Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review - Kettwig_2016_BMC.Neurol_16_74 |
| Author(s) : Kettwig M , Elpeleg O , Wegener E , Dreha-Kulaczewski S , Henneke M , Gartner J , Huppke P |
| Ref : BMC Neurol , 16 :74 , 2016 |
| Abstract : Kettwig_2016_BMC.Neurol_16_74 |
| ESTHER : Kettwig_2016_BMC.Neurol_16_74 |
| PubMedSearch : Kettwig_2016_BMC.Neurol_16_74 |
| PubMedID: 27206732 |
| Title : Cerebral visual impairment and intellectual disability caused by PGAP1 variants - Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| Author(s) : Bosch DG , Boonstra FN , Kinoshita T , Jhangiani S , de Ligt J , Cremers FP , Lupski JR , Murakami Y , de Vries BB |
| Ref : Eur J Hum Genet , 23 :1689 , 2015 |
| Abstract : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| ESTHER : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| PubMedSearch : Bosch_2015_Eur.J.Hum.Genet_23_1689 |
| PubMedID: 25804403 |
| Title : Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline - Granzow_2015_Mol.Cell.Probes_29_323 |
| Author(s) : Granzow M , Paramasivam N , Hinderhofer K , Fischer C , Chotewutmontri S , Kaufmann L , Evers C , Kotzaeridou U , Rohrschneider K , Schlesner M , Sturm M , Pinkert S , Eils R , Bartram CR , Bauer P , Moog U |
| Ref : Mol Cell Probes , 29 :323 , 2015 |
| Abstract : Granzow_2015_Mol.Cell.Probes_29_323 |
| ESTHER : Granzow_2015_Mol.Cell.Probes_29_323 |
| PubMedSearch : Granzow_2015_Mol.Cell.Probes_29_323 |
| PubMedID: 26050939 |
| Title : Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy - |
| Author(s) : Williams C , Jiang YH , Shashi V , Crimian R , Schoch K , Harper A , McHale D , Goldstein D , Petrovski S |
| Ref : Clin Genet , 88 :597 , 2015 |
| PubMedID: 25823418 |
| Title : Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders - Novarino_2014_Science_343_506 |
| Author(s) : Novarino G , Fenstermaker AG , Zaki MS , Hofree M , Silhavy JL , Heiberg AD , Abdellateef M , Rosti B , Scott E , Mansour L , Masri A , Kayserili H , Al-Aama JY , Abdel-Salam GMH , Karminejad A , Kara M , Kara B , Bozorgmehri B , Ben-Omran T , Mojahedi F , El Din Mahmoud IG , Bouslam N , Bouhouche A , Benomar A , Hanein S , Raymond L , Forlani S , Mascaro M , Selim L , Shehata N , Al-Allawi N , Bindu PS , Azam M , Gunel M , Caglayan A , Bilguvar K , Tolun A , Issa MY , Schroth J , Spencer EG , Rosti RO , Akizu N , Vaux KK , Johansen A , Koh AA , Megahed H , Durr A , Brice A , Stevanin G , Gabriel SB , Ideker T , Gleeson JG |
| Ref : Science , 343 :506 , 2014 |
| Abstract : Novarino_2014_Science_343_506 |
| ESTHER : Novarino_2014_Science_343_506 |
| PubMedSearch : Novarino_2014_Science_343_506 |
| PubMedID: 24482476 |
| Title : Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy - Murakami_2014_PLoS.Genet_10_e1004320 |
| Author(s) : Murakami Y , Tawamie H , Maeda Y , Buttner C , Buchert R , Radwan F , Schaffer S , Sticht H , Aigner M , Reis A , Kinoshita T , Jamra RA |
| Ref : PLoS Genet , 10 :e1004320 , 2014 |
| Abstract : Murakami_2014_PLoS.Genet_10_e1004320 |
| ESTHER : Murakami_2014_PLoS.Genet_10_e1004320 |
| PubMedSearch : Murakami_2014_PLoS.Genet_10_e1004320 |
| PubMedID: 24784135 |
| Gene_locus related to this paper: human-PGAP1 |