ArticleThe application of clinical genetics2025
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.
Ingrid Tatyana Bernal-Bonilla, Juan Sebastian Arias-Florez, Sandra Ximena Ramirez, Bibiana Alejandra Bayona-Gomez, Lina Castro-Castillo, Valeria Correa-Martinez, Yasmín Sanchez-Gomez, Natalia Santiago-Tovar, Cristian Camilo Gaviria-Sabogal, Nora Constanza Contreras Bravo and 4 more
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In one paragraphArticle in The application of clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 · Who and what moneyAuthors and funding
14 authors.
Ingrid Tatyana Bernal-BonillaDepartment of Morphology, Institute of Human Genetics, Universidad Nacional de Colombia. Grupo Investigación Genética Clínica UNAL, Bogotá D.C, Colombia.
Juan Sebastian Arias-FlorezDepartment of Morphology, Institute of Human Genetics, Universidad Nacional de Colombia. Grupo Investigación Genética Clínica UNAL, Bogotá D.C, Colombia.
Sandra Ximena RamirezDepartment of Internal Medicine, Hospital Universitario Mayor-Mederi, Universidad Del Rosario, Bogotá D.C, Colombia.
Bibiana Alejandra Bayona-GomezDepartment of Pediatrics, La Cardio, and Universidad Del Rosario, Bogotá D.C, Colombia.ORCID 0000-0001-5307-9910 Lina Castro-CastilloDepartment of Pediatrics, La Cardio, and Universidad Del Rosario, Bogotá D.C, Colombia.ORCID 0000-0002-6308-4913 Valeria Correa-MartinezSchool of Medicine, Universidad Nacional de Colombia, Bogotá D.C, Colombia.
Yasmín Sanchez-GomezUniversidad de Boyacá. Medisens IPS, Tunja, Colombia.
Natalia Santiago-TovarSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT). Universidad del Rosario, Bogotá D.C, Colombia.
Cristian Camilo Gaviria-SabogalSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT). Universidad del Rosario, Bogotá D.C, Colombia.ORCID 0009-0004-9482-4373 Nora Constanza Contreras BravoSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT). Universidad del Rosario, Bogotá D.C, Colombia.
Rodrigo CabreraSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT). Universidad del Rosario, Bogotá D.C, Colombia.ORCID 0000-0002-5731-1788 Adrien MorelSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT). Universidad del Rosario, Bogotá D.C, Colombia.ORCID 0000-0002-9654-6053 Dora Janeth Fonseca-MendozaSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT). Universidad del Rosario, Bogotá D.C, Colombia.ORCID 0000-0002-7323-6570 Carlos M RestrepoSchool of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT). Universidad del Rosario, Bogotá D.C, Colombia.
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Zellweger syndrome (ZS) is a heterogeneous group of clinical conditions that commonly manifest with neurodevelopmental delay, multiple neurological abnormalities, visual and auditory impairments, and adrenocortical dysfunction. ZS is an autosomal recessive peroxisomal disorder resulting from mutations in one of over 13 identified genes. We report the case of a male child with episodic seizures starting at 18 days of life, followed by neurodevelopmental delay and neuroimaging findings of asymmetric polymicrogyria and cortical abnormalities. His healthy parents were consanguineous, and notably, a brother, who passed away at the age of 5 years-old, had epilepsy and adrenoleukodystrophy. Exome sequencing allowed the identification of a novel stop-loss homozygous variant in the
Indexed as
heimler syndromemolecular variantneonatal adrenoleukodystrophyperoxisome biogenesis disordervery long chain fatty acidszellweger syndrome
Identifiers
PMID40934063
PMCPMC12417589
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