Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Autor: Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier

Publikováno v: Pediatric Dermatology
Pediatric Dermatology, 2022, 39 (3), pp.434-437. ⟨10.1111/pde.14969⟩

International audience; Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to PIGL gene mutations. Here, we report a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55819e94e32e601d4bc38deff7039c2b
https://doi.org/10.1111/pde.14969

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Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

Autor: Stephanie Fox, Ruqaiah Altassan, Chantal Poulin, Daniela Buhas

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 46-49 (2018)

Hypomorphic mutations in six different genes involved in the glycosylphosphatidylinositol (GPI) biogenesis pathway are linked to Mabry syndrome (hyperphosphatasia with mental retardation syndrome, HPMRS). This report on the third affected family with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::080a28b8b12a1b7c839ac1e1e272bcdf
https://doi.org/10.1016/j.ymgmr.2018.01.007

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

Autor: Débora Romeo Bertola, Maria Rita Passos-Bueno, Rachel Sayuri Honjo, José Ricardo Magliocco Ceroni, Guilherme L. Yamamoto, Chong Ae Kim

Publikováno v: Genetics and Molecular Biology, Volume: 41, Issue: 1, Pages: 85-91, Published: 19 FEB 2018
Genetics and Molecular Biology, Issue: ahead, Published: 19 FEB 2018
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Genetics and Molecular Biology
Genetics and Molecular Biology v.41 n.1 2018
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Iss 0 (2018)

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 pla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec003ab5be11997b33f32ad27b9e6416
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100085&lng=en&tlng=en

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