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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Ceroni, Jose R. M. [1] ; Yamamoto, Guilherme L. [1, 2] ; Honjo, Rachel S. [1] ; Kim, Chong A. [1] ; Passos-Bueno, Maria R. [2] ; Bertola, Debora R. [1, 2]
Total Authors: 6
Affiliation:
[1] Univ Sao Paulo, Genet Unit, Inst Crianca, Hosp Clin, Fac Med, Av Dr Eneas Carvalho Aguiar 647, BR-05403000 Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, Sao Paulo, SP - Brazil
Total Affiliations: 2
Document type: Journal article
Source: GENETICS AND MOLECULAR BIOLOGY; v. 41, n. 1, p. 85-91, JAN-MAR 2018.
Web of Science Citations: 0
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. (AU)

FAPESP's process: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center
Grantee:Mayana Zatz
Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC