Article

Turkish cases of Mabry Syndrome with a novel homozygous mutation in PGAP2 gene

2021-08-17

Abstract excerpt

<title>Abstract</title> <p>Hyperphosphatasia with mental retardation syndrome is a genetic disorder. We report two siblings aged three years and fourteen years who were investigated for global development delays, seizures and dysmorphic features. A novel missense variant, c.1003G>A (p. Ala335 Thr chr11.3,846,572 NM_001256236.1), in PGAP2 gene was identified using whole-exome sequencing. We highlight the significa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 278c9878-072c-5bed-bc25-309a9ed5dbfc
DOI: 10.21203/rs.3.rs-772787/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Turkish cases of Mabry Syndrome with a novel homozygous mutation in PGAP2 geneDOI 10.21203/rs.3.rs-772787/v2Read

Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.Semantic proximity Read

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi familySemantic proximity Read

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.Semantic proximity Read

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Semantic proximity Read

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.Semantic proximity Read

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.Semantic proximity Read

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.Semantic proximity Read

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

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.Semantic proximity Read

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.Semantic proximity Read

Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.Semantic proximity Read

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Semantic proximity Read