A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. (Q52147061)

23 April 2018

title

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

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23 April 2018

Simpson-Golabi-Behmel syndrome

main subject

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3

Annick Toutain

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14

Anita Rauch

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author name string

Christine Fauth

1

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Katharina Steindl

2

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23 April 2018

Sandra Farrell

4

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23 April 2018

Martina Witsch-Baumgartner

5

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Daniela Karall

6

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Pascal Joset

7

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Sebastian Böhm

8

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Alessandra Baumer

9

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Oliver Maier

10

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Johannes Zschocke

11

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Rosanna Weksberg

12

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Christian R Marshall

13

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language of work or name

English

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publication date

6 November 2015

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23 April 2018

American Journal of Medical Genetics

published in

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volume

170A

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issue

2

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page(s)

392-402

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23 April 2018

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

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Invited editorial comment--The human phenotype of germline PIGA mutations.

21 January 2018

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Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome

21 January 2018

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

21 January 2018

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Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome

21 January 2018

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Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog

21 January 2018

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Trophoblast differentiation defect in human embryonic stem cells lacking PIG-A and GPI-anchored cell-surface proteins

21 January 2018

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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.

21 January 2018

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A knock-out model of paroxysmal nocturnal hemoglobinuria: Pig-a(-) hematopoiesis is reconstituted following intercellular transfer of GPI-anchored proteins

21 January 2018

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GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics

21 January 2018

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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

21 January 2018

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Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

21 January 2018

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

21 January 2018

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

21 January 2018

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X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation

21 January 2018

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Biosynthesis and deficiencies of glycosylphosphatidylinositol

21 January 2018

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Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

21 January 2018

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A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

21 January 2018

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Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism

21 January 2018

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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

21 January 2018

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

21 January 2018

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Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

21 January 2018

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Considerations for a multiaxis nomenclature system for medical genetics

21 January 2018

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

21 January 2018

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

21 January 2018

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The genotypic and phenotypic spectrum of PIGA deficiency

21 January 2018

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An integrated map of genetic variation from 1,092 human genomes

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37452

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23 April 2018

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23 April 2018