{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:50:45Z","timestamp":1790776245193,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T00:00:00Z","timestamp":1576454400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["63\/8\/2010\u2010BMS"],"award-info":[{"award-number":["63\/8\/2010\u2010BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Renpenning syndrome is one of the well\u2010characterized causes of X\u2010linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole\u2010exome sequencing, a hemizygous deletion was identified in <jats:italic>PQBP1<\/jats:italic> that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent.<\/jats:p>","DOI":"10.1002\/ajmg.a.61457","type":"journal-article","created":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T12:56:40Z","timestamp":1576501000000},"page":"293-295","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Renpenning syndrome in an Indian patient"],"prefix":"10.1002","volume":"182","author":[{"given":"Suzena","family":"Masih","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences  Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0756-9868","authenticated-orcid":false,"given":"Amita","family":"Moirangthem","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences  Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6624-082X","authenticated-orcid":false,"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences  Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40479"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01551.x"},{"issue":"4","key":"e_1_2_6_4_1","first-page":"522","article-title":"First Korean case of Renpenning syndrome with novel mutation in PQBP1 diagnosed by targeted exome sequencing, and literature review","volume":"48","author":"Jeong H. I.","year":"2018","journal-title":"Annals of Clinical & Laboratory Science"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1264"},{"key":"e_1_2_6_6_1","first-page":"43","article-title":"Golabi\u2013Ito\u2013Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene","volume":"30","author":"Lubs H.","year":"2006","journal-title":"Journal of Medical Genetics"}],"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.61457","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61457","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61457","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61457","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T00:21:23Z","timestamp":1694132483000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61457"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,16]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1002\/ajmg.a.61457"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61457","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,16]]},"assertion":[{"value":"2019-03-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}