{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T01:34:59Z","timestamp":1781314499506,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T00:00:00Z","timestamp":1424649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"a Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science","award":["C: 25461535"],"award-info":[{"award-number":["C: 25461535"]}]},{"name":"a Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science","award":["C: 23590363"],"award-info":[{"award-number":["C: 23590363"]}]},{"name":"the Ministry of Health, Labor and Welfare"},{"DOI":"10.13039\/100007449","name":"the Takeda Science Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures. Recent studies have revealed mutations in <jats:italic>PIGV, PIGW, PIGO, PGAP2<\/jats:italic>, and <jats:italic>PGAP3<\/jats:italic> (genes that encode molecules of the glycosylphosphatidylinositol (GPI)\u2010anchor biosynthesis pathway) in patients with HPMRS. We performed whole\u2010exome sequencing of a patient with severe intellectual disability, distinctive facial appearance, fragile nails, and persistent increased serum levels of ALP. The result revealed a compound heterozygote with a 13\u2010bp deletion in exon 1 (c.36_48del) and a two\u2010base deletion in exon 2 (c.254_255del) in phosphatidylinositol glycan anchor, class L (<jats:italic>PIGL<\/jats:italic>) that caused frameshifts resulting in premature terminations. The 13\u2010bp deletion was inherited from the father, and the two\u2010base deletion was inherited from the mother. Expressing c.36_48del or c.254_255del cDNA with an HA\u2010tag at the C\u2010 or N\u2010terminus in <jats:italic>PIGL<\/jats:italic>\u2010deficient CHO cells only partially restored the surface expression of GPI\u2010anchored proteins (GPI\u2010APs). Nonsynonymous changes or frameshift mutations in <jats:italic>PIGL<\/jats:italic> have been identified in patients with CHIME syndrome, a rare autosomal recessive disorder characterized by colobomas, congenital heart defects, early onset migratory ichthyosiform dermatosis, intellectual disability, and ear abnormalities. Our patient did not have colobomas, congenital heart defects, or early onset migratory ichthyosiform dermatosis and hence was diagnosed with HPMRS, and not CHIME syndrome. These results suggest that frameshift mutations that result in premature termination in <jats:italic>PIGL<\/jats:italic> cause a phenotype that is consistent with HPMRS. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36987","type":"journal-article","created":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T10:14:34Z","timestamp":1424686474000},"page":"777-785","source":"Crossref","is-referenced-by-count":33,"title":["Mutations in <i>PIGL<\/i> in a patient with Mabry syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Ikuma","family":"Fujiwara","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tohoku University School of Medicine Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Murakami","sequence":"additional","affiliation":[{"name":"WPI Immunology Frontier Research Center and Research Institute for Microbial Diseases Osaka University Osaka 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