A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing. (Q64983218)

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scientific article published on 4 July 2018

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English	A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.	scientific article published on 4 July 2018

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scholarly article

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4 April 2020

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing (English)

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4 April 2020

multiple congenital anomalies-hypotonia-seizures syndrome 2

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multiple congenital anomalies-hypotonia-seizures syndrome

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2

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4 April 2020

10

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4 April 2020

11

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4 April 2020

author name string

Junli Yang

1

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4 April 2020

Qingcui Zhuo

3

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4 April 2020

Huiling Tian

4

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4 April 2020

Wen Li

5

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4 April 2020

Fang Luo

6

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4 April 2020

Jinghui Zhang

7

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4 April 2020

Dan Bi

8

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4 April 2020

Jing Peng

9

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4 April 2020

publication date

4 July 2018

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4 April 2020

Molecular genetics & genomic medicine

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4 April 2020

6

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4 April 2020

5

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4 April 2020

739-748

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4 April 2020

Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosylphosphatidylinositol-anchor-deficient mice: implications for clonal dominance of mutant cells in paroxysmal nocturnal hemoglobinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent PIG‐A mutation (IVS5+1G→A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental abnormalities of glycosylphosphatidylinositol-anchor-deficient embryos revealed by Cre/loxP system.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The glycosylphosphatidylinositol anchor: a complex membrane-anchoring structure for proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and deficiencies of glycosylphosphatidylinositol

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In silico prediction of splice-altering single nucleotide variants in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genotypic and phenotypic spectrum of PIGA deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosylphosphatidylinositol-anchored proteins: Membrane organization and transport

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic analysis of two Chinese infants with Mabry syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quinidine therapy for West syndrome with KCNTI mutation: A case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal differentiation through GPI-anchor cleavage.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins.

1 reference

https://pubmed.ncbi.nlm.nih.gov/29974678

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/MGG3.428

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4 April 2020

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4 April 2020

PubMed publication ID

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29974678%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

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