{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T02:51:36Z","timestamp":1774839096308,"version":"3.50.1"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Renpenning syndrome (OMIM: 309500) is a rare X-linked intellectual disability caused by variations in the polyglutamine-binding protein 1 (PQBP1) gene, characterized by moderate to severe intellectual disability, microcephaly, short stature, lean body, small testes, and abnormal facial features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Comprehensive clinical evaluation and whole exome sequencing were performed to identify the genetic basis of the clinical presentation in a 4-year-7-month-old male proband from a Chinese family. Detected variants underwent validation and familial segregation analysis by Sanger sequencing. Additionally, a literature review was conducted to analyze PQBP1-related genotype-phenotype correlations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The proband exhibited typical manifestations of Renpenning syndrome, including severe global developmental delay, microcephaly, short stature, and characteristic facial features. Additionally, he presented with rare anal atresia and co-occurring autism spectrum disorder (ASD). Whole exome sequencing identified a hemizygous PQBP1 frameshift variant, NM_001032382.2:c.459_462delAGAG (p.Arg153fs) (VCV000010980.79), in the proband. Sanger sequencing confirmed this variant was maternally inherited.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This report describes the first Chinese case of Renpenning syndrome caused by the PQBP1 c.459_462delAGAG variant, presenting with the core phenotype plus anal atresia and ASD. This case expands recognition of the clinical spectrum associated with PQBP1 variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1642438","type":"journal-article","created":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T01:54:20Z","timestamp":1774835660000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Mengting","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Fuyang People\u2019s Hospital of Anhui Medical University","place":["Fuyang, Anhui, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengli","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuyang People\u2019s Hospital of Anhui Medical University","place":["Fuyang, Anhui, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongrong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuyang People\u2019s Hospital of Anhui Medical University","place":["Fuyang, Anhui, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuxiang","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuyang People\u2019s Hospital of Anhui Medical University","place":["Fuyang, Anhui, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoshun","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fuyang People\u2019s Hospital of Anhui Medical University","place":["Fuyang, Anhui, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2446","DOI":"10.1002\/ajmg.a.40479","article-title":"Phenotypic and molecular insights into PQBP1\u2010related intellectual disability","volume":"176","author":"Abdel-Salam","year":"2018","journal-title":"Am. 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