{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:36:49Z","timestamp":1790044609079,"version":"4.0.1"},"reference-count":8,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T00:00:00Z","timestamp":1309996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hyperphosphatasia\u2010mental retardation syndrome is a recently delineated disorder associated with a recognizable facial phenotype and brachytelephalangy. This autosomal recessive condition is caused by homozygous and compound heterozygous missense mutations of <jats:italic>PIGV<\/jats:italic>, encoding a member of the GPI\u2010anchor biosynthesis pathway. Here, we report on two further, unrelated patients with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, anal atresia in one and Hirschsprung disease in the other patient. By sequencing <jats:italic>PIGV<\/jats:italic> we detected compound heterozygous mutations c.467G&gt;A and c.1022C&gt;A in Patient 1 and a homozygous mutation c.1022C&gt;A in Patient 2. We reviewed the eight reported cases with proven <jats:italic>PIGV<\/jats:italic> mutations and re\u2010defined the phenotypic spectrum associated with <jats:italic>PIGV<\/jats:italic> mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip\/palate and hearing impairment should be considered as part of the clinical spectrum. Moreover, seizures and muscular hypotonia are frequently associated with <jats:italic>PIGV<\/jats:italic> mutations. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34102","type":"journal-article","created":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T19:53:29Z","timestamp":1310068409000},"page":"1917-1922","source":"Crossref","is-referenced-by-count":53,"title":["Hyperphosphatasia\u2010mental retardation syndrome due to <i>PIGV<\/i> mutations: Expanded clinical spectrum"],"prefix":"10.1002","volume":"155","author":[{"given":"Denise","family":"Horn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Krawitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anca","family":"Mannhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg Christoph","family":"Korenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Meinecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,7,7]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"72","volume-title":"Radiographic atlas of skeletal development of the hand and wrist","author":"Greulich WW","year":"1959"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.01.002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.653"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80331-7"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80047-6"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3280147130"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410317"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33438"}],"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.34102","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:50:09Z","timestamp":1697651409000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7,7]]},"references-count":8,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2011,8]]}},"alternative-id":["10.1002\/ajmg.a.34102"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34102","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,7,7]]}}}