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

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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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Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Other 2 20%
Student > Doctoral Student 2 20%
Student > Bachelor 1 10%
Student > Master 1 10%
Unknown 4 40%
Readers by discipline Count As %
Medicine and Dentistry 3 30%
Neuroscience 1 10%
Biochemistry, Genetics and Molecular Biology 1 10%
Unknown 5 50%