Inherited glycosylphosphatidylinositol deficiencies

Definition:

Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations in several genes have been identified, mostly related to autosomal recessive. Clinical phenotypes are variable, often include developmental delay, hyperphosphatasia, (neonatal) seizures, hypotonia, neurological symptoms, growth abnormalities, and congenital abnormalities.

References:

[1]. Aleksandra Jezela-Stanek, et al. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. Eur J Paediatr Neurol. 2016 May;20(3):462-73. [Content Brief]

[2]. Alexej Knaus, et al. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. Am J Hum Genet. 2019 Aug 1;105(2):395-402. [Content Brief]

[3]. Alistair T Pagnamenta, et al. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. Hum Mutat. 2018 Jun;39(6):822-826. [Content Brief]

[4]. Devon L Johnstone, et al. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. Hum Mol Genet. 2017 May 1;26(9):1706-1715. [Content Brief]

[5]. Simon Edvardson, et al. Mutations in the phosphatidylinositol glycan C ( PIGC) gene are associated with epilepsy and intellectual disability. J Med Genet. 2017 Mar;54(3):196-201. [Content Brief]

[6]. Taroh Kinoshita, et al. Biosynthesis and deficiencies of glycosylphosphatidylinositol. Proc Jpn Acad Ser B Phys Biol Sci. 2014;90(4):130-43. [Content Brief]

[7]. Thi Tuyet Mai Nguyen, et al. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):484-495. [Content Brief]

[8]. Thi Tuyet Mai Nguyen, et al. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 2;101(5):856-865. [Content Brief]

[9]. Thi Tuyet Mai Nguyen, et al. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. Am J Hum Genet. 2018 Oct 4;103(4):602-611. [Content Brief]

[10]. Yoshiko Murakami, et al. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am J Hum Genet. 2019 Aug 1;105(2):384-394. [Content Brief]

[11]. Yoshiko Murakami, et al. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet. 2014 May 1;10(5):e1004320. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.