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An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.

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Title: An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.
Authors: Bolte A; Department of Pediatrics, Pediatric Neurology, Kinderkrankenhaus Amsterdamer Strasse, Kliniken der Stadt Köln, Cologne, Germany., Velmans C; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany., Netzer C; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Faculty of Medicine, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Tuncel AT; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany., Bürger F; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany., Hiersche M; Bioscientia Bioinformatics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany., Betz C; Bioscientia Human Genetics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany., Bolz HJ; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany. hanno.bolz@bioscientia.de.; Bioscientia Human Genetics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany. hanno.bolz@bioscientia.de.
Source: Human genomics [Hum Genomics] 2026 Jun 10; Vol. 20 (1). Date of Electronic Publication: 2026 Jun 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.
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  Data: <searchLink fieldCode="AU" term="%22Bolte+A%22">Bolte A</searchLink>; Department of Pediatrics, Pediatric Neurology, Kinderkrankenhaus Amsterdamer Strasse, Kliniken der Stadt Köln, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Velmans+C%22">Velmans C</searchLink>; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Netzer+C%22">Netzer C</searchLink>; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Thimm+E%22">Thimm E</searchLink>; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Faculty of Medicine, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Tuncel+AT%22">Tuncel AT</searchLink>; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Bürger+F%22">Bürger F</searchLink>; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hiersche+M%22">Hiersche M</searchLink>; Bioscientia Bioinformatics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany.<br /><searchLink fieldCode="AU" term="%22Betz+C%22">Betz C</searchLink>; Bioscientia Human Genetics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany.<br /><searchLink fieldCode="AU" term="%22Bolz+HJ%22">Bolz HJ</searchLink>; Institute of Human Genetics, Faculty of Medicine, University Hospital of Cologne, University of Cologne, Cologne, Germany. hanno.bolz@bioscientia.de.; Bioscientia Human Genetics, Bioscientia Institute for Medical Diagnostics, Ingelheim, Germany. hanno.bolz@bioscientia.de.
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  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2026 Jun 10; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 Jun 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE
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              Text: 2026 Jun 10
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