{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T17:24:01Z","timestamp":1775841841424,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"3","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\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","award":["F16\u201002276"],"award-info":[{"award-number":["F16\u201002276"]}],"id":[{"id":"10.13039\/501100000233","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":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Renpenning syndrome (OMIM: 309500) is a rare X\u2010linked disorder that causes intellectual disability, microcephaly, short stature, a variety of eye anomalies, and characteristic craniofacial features. This condition results from pathogenic variation of <jats:italic>PQBP1<\/jats:italic>, a polyglutamine\u2010binding protein involved in transcription and pre\u2010mRNA splicing. Renpenning syndrome has only been reported in affected males. Carrier females do not usually have clinical features, and in reported families with Renpenning syndrome, most female carriers exhibit favorable skewing of X\u2010chromosome inactivation. We describe a female with syndromic features typical of Renpenning syndrome. She was identified by exome sequencing to have a de novo heterozygous c.459_462delAGAG mutation in <jats:italic>PQBP1<\/jats:italic> (Xp11.23), affecting the AG hexamer in exon 4, which is the most common causative mutation in this syndrome. Streaky hypopigmentation of the skin was observed, supporting a hypothesized presence of an actively expressed, <jats:italic>PQBP1<\/jats:italic> mutation\u2010bearing X\u2010chromosome in some cells. X\u2010inactivation studies on peripheral blood cells demonstrated complete skewing in both the proband and her mother with preferential inactivation of the maternal X chromosome in the child. We demonstrated expression of the <jats:italic>PQBP1<\/jats:italic> mutant transcript in leukocytes of the affected girl. Therefore, it is highly likely that the PQBP1 mutation arose from the paternal X chromosome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61451","type":"journal-article","created":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T12:54:56Z","timestamp":1576500896000},"page":"498-503","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Renpenning syndrome in a female"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6941-7216","authenticated-orcid":false,"given":"Raymond Y.","family":"Cho","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria S.","family":"Pe\u00f1aherrera","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia Canada"},{"name":"BC 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