{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T16:44:24Z","timestamp":1780505064059,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,7,4]],"date-time":"2007-07-04T00:00:00Z","timestamp":1183507200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:p>The term \u2018pseudodeficiency\u2019 is used in lysosomal storage diseases to denote the situation in which individuals show greatly reduced enzyme activity but remain clinically healthy. Pseudodeficiencies have been reported for several lysosomal hydrolases. GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by \u03b2\u2010galactosidase hydrolase deficiency as a result of mutations in the <jats:italic>GLB1<\/jats:italic> gene. Until now, two variants altering the \u03b2\u2010galactosidase activity have been described, p.Arg521Cys and p.Ser532Gly. Here we report the new variant p.Arg595Trp in the <jats:italic>GLB1<\/jats:italic> gene, which markedly reduces \u03b2\u2010galactosidase activity when expressed in COS\u20101 cells. The variant was identified in the healthy father of a girl with GM1 gangliosidosis. He was a heterozygous compound with p.Arg595Trp in <jats:italic>trans<\/jats:italic> with one of the disease\u2010causing mutations identified in his daughter; in leukocytes and plasma he showed lower \u03b2\u2010galactosidase activity than that observed in GM1 gangliosidosis carriers. As this family originated from the Basque Country in the north of Spain, we decided to analyse individuals of Basque and non\u2010Basque origin, finding the p.Arg595Trp allele in 3.2% of Basque and in 0.8% of non\u2010Basque alleles. The detection of the presence of alterations resulting in pseudodeficient activity in leukocytes and plasma is important for the correct diagnosis of GM1 gangliosidosis.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00843.x","type":"journal-article","created":{"date-parts":[[2007,7,4]],"date-time":"2007-07-04T11:07:59Z","timestamp":1183547279000},"page":"109-111","source":"Crossref","is-referenced-by-count":19,"title":["Identification of a novel pseudodeficiency allele in the <i>GLB1<\/i> gene in a carrier of GM1 gangliosidosis"],"prefix":"10.1111","volume":"72","author":[{"given":"L","family":"Gort","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Santamaria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Grinberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Vilageliu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Chab\u00e1s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,13]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"934","article-title":"\u201cPseudodeficiencies\u201d of lysosomal hydrolases","volume":"54","author":"Thomas GH","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_2","first-page":"3775","volume-title":"The metabolic and molecular bases of inherited disease","author":"Suzuki Y","year":"2001"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20147"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1042\/0264-6021:3480621"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9451"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.23.9436"},{"key":"e_1_2_6_9_2","first-page":"75","article-title":"Molecular genetic defect underlying alpha\u2010L\u2010iduronidase pseudodeficiency","volume":"58","author":"Aronovich EL","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.23.14975"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10275"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050656"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20043"},{"key":"e_1_2_6_14_2","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/s00439-003-0930-8","article-title":"Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type\u2010II GM1 gangliosidosis patient","volume":"113","author":"Caciotti A","year":"2003","journal-title":"Hum Genet"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330930205"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00843.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00843.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T15:24:14Z","timestamp":1696865054000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00843.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,13]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,8]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00843.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00843.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,13]]}}}