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Article

Renpenning syndrome in a female.

American journal of medical genetics. Part A - 1 Mar 2020

Cho Raymond Y, Peñaherrera Maria S, Du Souich Christele, Huang Lijia, Mwenifumbo Jill, Nelson Tanya N, Elliott Alison M, Adam Shelin, Eydoux Patrice, Yang Gui X, Chijiwa Chieko, Van Allen Margot I, Friedman Jan M, Robinson Wendy P, Lehman Anna

Abstract excerpt

Renpenning syndrome (OMIM: 309500) is a rare X-linked disorder that causes intellectual disability, microcephaly, short stature, a variety of eye anomalies, and characteristic craniofacial features. This condition results from pathogenic variation of PQBP1, a polyglutamine-binding protein involved in transcription and pre-mRNA splicing. Renpenning syndrome has only been reported in affected males. Carrier females...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

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Source

Identifiers

PMID: 31840929
DOI: 10.1002/ajmg.a.61451

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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Renpenning syndrome in a female.PMID 31840929Read ↗

First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.Semantic proximity Read ↗

Renpenning syndrome in an Indian patient.Semantic proximity Read ↗

Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.Semantic proximity Read ↗

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene.Semantic proximity Read ↗

A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.Semantic proximity Read ↗

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.Semantic proximity Read ↗

Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G).Semantic proximity Read ↗

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.Semantic proximity Read ↗

Molecular consequences of <i>PQBP1</i> deficiency, involved in the X-linked Renpenning syndromeSemantic proximity Read ↗

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.Semantic proximity Read ↗

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Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.Semantic proximity Read ↗

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