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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Overview of attention for article published in Genetics and Molecular Biology, February 2018
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Title
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Published in
Genetics and Molecular Biology, February 2018
DOI 10.1590/1678-4685-gmb-2017-0172
Pubmed ID
Authors

José Rm Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola

Abstract

CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases within the congenital disorders of glycosylation. Patients in this group often present alkaline phosphatase serum levels abnormalities and neurological symptoms. We report a CHIME syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5' untranslated region and part of exon 1 of PIGL. In CHIME syndrome, a recurrent missense mutation c.500T > C (p.Leu167Pro) is found in the majority of patients, associated with a null mutation in the other allele, including an overrepresentation of large deletions. The latter are not detected by the standard analysis in sequencing techniques, including next-generation sequencing. Thus, in individuals with a clinical diagnosis of CHIME syndrome in which only one mutation is found, an active search for a large deletion should be sought.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Student > Doctoral Student 3 27%
Other 2 18%
Student > Bachelor 1 9%
Student > Master 1 9%
Unknown 4 36%
Readers by discipline Count As %
Medicine and Dentistry 4 36%
Neuroscience 1 9%
Biochemistry, Genetics and Molecular Biology 1 9%
Unknown 5 45%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 February 2018.
All research outputs
#20,663,600
of 25,382,440 outputs
Outputs from Genetics and Molecular Biology
#552
of 772 outputs
Outputs of similar age
#268,670
of 344,213 outputs
Outputs of similar age from Genetics and Molecular Biology
#11
of 14 outputs
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