{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T21:13:55Z","timestamp":1772745235207,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,3]],"date-time":"2020-01-03T00:00:00Z","timestamp":1578009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the <jats:italic>GMPPA<\/jats:italic> gene were described in association with one such CDG known as alacrima, achalasia, and mental retardation syndrome (AAMR). To date, 18 patients have been reported, nearly all displaying the same pathognomonic triad of symptoms described in the name. This condition shares considerable phenotypic overlap with Triple\u2010A syndrome caused by biallelic mutations in the <jats:italic>AAAS<\/jats:italic> gene; however, AAMR lacks the characteristic adrenocortical findings associated with Triple\u2010A syndrome. We report three patients from two unrelated families with the same homozygous <jats:italic>GMPPA<\/jats:italic> mutation (c.265dup, p.L89fs). Notably, both families reported indigenous Maya\u2010Mam heritage and originated from the town of Concepci\u00f3n Chiquirichapa in Quezaltenango, Guatemala. Our cases help to expand the AAMR phenotype by outlining dysmorphic features not well described in the prior cases. Additionally, we encourage all providers with patients presenting with this unique triad of symptoms to consider sequencing of the <jats:italic>GMPPA<\/jats:italic> gene. Special consideration should be given to families of Guatemalan Maya\u2010Mam ancestry who may also have this identified founder mutation. Finally, this condition may indeed be underdiagnosed based on a review of the literature.<\/jats:p>","DOI":"10.1002\/ajmg.a.61476","type":"journal-article","created":{"date-parts":[[2020,1,3]],"date-time":"2020-01-03T10:39:10Z","timestamp":1578047950000},"page":"425-430","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Evidence of <i>GMPPA<\/i> founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8329-7775","authenticated-orcid":false,"given":"Jullianne","family":"Diaz","sequence":"first","affiliation":[{"name":"Rare Disease Institute Children's National Health System  Washington District of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy D.","family":"Kane","sequence":"additional","affiliation":[{"name":"Division of General &amp; Thoracic Surgery Children's National Health System  Washington District of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eyby","family":"Leon","sequence":"additional","affiliation":[{"name":"Rare Disease Institute Children's National Health System  Washington District of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12872"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)91268-0"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000485908"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38292"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.002"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2005.067686"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2016.05.015"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61476","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61476","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61476","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61476","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T18:34:55Z","timestamp":1694111695000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61476"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,3]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1002\/ajmg.a.61476"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61476","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,3]]},"assertion":[{"value":"2019-08-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}