{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T10:07:58Z","timestamp":1785838078868,"version":"3.56.0"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,8,10]],"date-time":"2017-08-10T00:00:00Z","timestamp":1502323200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2017,8,10]],"date-time":"2017-08-10T00:00:00Z","timestamp":1502323200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The clinical significance of the c.427G&gt;A (p.A143T) variant in <jats:italic>GLA<\/jats:italic> is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha\u2010 galactosidase enzyme levels, leaving clinicians unsure of how to manage these individuals. As the number of states testing for Fabry disease on their newborn screening panel has increased, more people with this variant are being identified. The goal of this project was to learn how the uncertainty surrounding the clinical significance of the p.A143T variant affects those with this change. A self\u2010response questionnaire was developed to explore this topic. In addition to evaluating participant feelings, the questionnaire explored individuals\u2019 beliefs regarding the pathogenicity of the variant. Results suggest that people have diverse feelings regarding reclassification of the p.A143T variant. Around half of those surveyed reported feeling frustrated by the lack of clear information. Despite the ambiguity regarding the health consequences of this variant, many participants felt that knowing this result helps guide medical management.<\/jats:p>","DOI":"10.1007\/s10897-017-0139-y","type":"journal-article","created":{"date-parts":[[2017,8,10]],"date-time":"2017-08-10T03:40:42Z","timestamp":1502336442000},"page":"217-224","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene"],"prefix":"10.1002","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5141-3321","authenticated-orcid":false,"given":"Sarah","family":"Macklin","sequence":"first","affiliation":[{"name":"Emory University Department of Human Genetics Atlanta GA USA"},{"name":"Mayo Clinic Department of Clinical Genomics 4500 San Pablo Rd Jacksonville FL 32224 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"Laney","sequence":"additional","affiliation":[{"name":"Emory University Department of Human Genetics Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Lisi","sequence":"additional","affiliation":[{"name":"Emory University Department of Human Genetics Atlanta GA USA"},{"name":"Mayo Clinic Center for Individualized Medicine Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Atherton","sequence":"additional","affiliation":[{"name":"Shire Human Genetic Therapies Lexington MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Smith","sequence":"additional","affiliation":[{"name":"Emory University Department of Human Genetics Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,10]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02388.x"},{"key":"e_1_2_13_3_1","unstructured":"Brower A. Hoffman A. J. Thompson B. H &Watson M. S.(2011).Utilization of the newborn screening translational research network to advance research and clinical applications in lysosomal storage disorders.7th Annual WORLD Symposium 2011."},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.5070\/D35BK233ZQ"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-138-4-200302180-00014"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.12.067"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03401671"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.73"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.09.023"},{"key":"e_1_2_13_10_1","unstructured":"Howell R.(2008).Letter from committee.Advisory committee on heritable disorders in newborns and children. 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