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Disease Report for: Mental retardation, autosomal recessive 42 MRT42

Alternative name(s)|
Mutation|9 mutations (e.g. : E113Rfs_human-PGAP1, IVS10+1G>C, IVS13+1G>T... more)
OMIM: |615802, 611655

(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 M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gartner J, Huppke P
    Ref: BMC Neurol, 16:74, 2016 : PubMed


    Title: Cerebral visual impairment and intellectual disability caused by PGAP1 variants
    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 : PubMed


    Title: Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline
    Granzow M, Paramasivam N, Hinderhofer K, Fischer C, Chotewutmontri S, Kaufmann L, Evers C, Kotzaeridou U, Rohrschneider K and Moog U <6 more author(s)>
    Ref: Mol Cell Probes, 29:323, 2015 : PubMed


    Title: Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy
    Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S
    Ref: Clin Genet, 88:597, 2015 : PubMed


    Title: Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy
    Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M and Jamra RA <2 more author(s)>
    Ref: PLoS Genet, 10:e1004320, 2014 : PubMed


    Title: Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
    Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E and Gleeson JG <42 more author(s)>
    Ref: Science, 343:506, 2014 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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