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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133212 | PMC |
| http://dx.doi.org/10.1038/s41431-023-01292-1 | DOI Listing |
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De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum.
Mol Genet Genomic Med
September 2025
Genomic Health, West Leederville, Western Australia, Australia.
Background: Culler-Jones syndrome (CJS) is an autosomal dominant disorder characterized by hypopituitarism, postaxial polydactyly, and craniofacial anomalies, associated with pathogenic GLI2 variants. Genotype-phenotype correlations suggest missense variants may present with isolated pituitary phenotypes.
Methods: We evaluated an 8-year-old boy referred for short stature, failure to thrive, and neurodevelopmental concerns.
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.
Clin Genet
July 2025
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Jones syndrome (JS) is an ultra-rare autosomal dominant condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been recently demonstrated in members of a Finnish family to co-segregate with heterozygosity for a frameshift variant in the fifth and last exon of the repressor element 1-silencing transcription factor gene (REST). Here, we report the first Italian family in which JS was diagnosed in the proband, a 38-year-old woman, and in her mother.
View Article and Find Full Text PDF[Culler-Jones syndrome caused by a new mutated GLI2 gene: a case report].
Zhonghua Nei Ke Za Zhi
December 2023
Department of Endocrinology, the Affiliated Hospital of Qingdao University, Qingdao 266003, China.
Case report: A case of Culler-Jones syndrome caused by a novel mutation of gene and literature review.
Front Endocrinol (Lausanne)
March 2023
Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, China.
Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain. Kallmann syndrome was suspected initially.
View Article and Find Full Text PDFThe cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss.
Eur J Hum Genet
April 2023
Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA, 52242, USA.