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Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

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Title: Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Authors: Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Zheng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Deng M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Etoundi M; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Department of Neurology, Baylor College of Medicine, Houston, United States., Li-Kroeger D; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Department of Neurology, Baylor College of Medicine, Houston, United States., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Blieden LS; The Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, United States., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States., Chen WL; Department of Neurology, Baylor College of Medicine, Houston, United States.; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States., Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy., Mandriani B; Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', Bari, Italy., Otten CE; Department of Neurology, University of Washington and Seattle Children's Hospital, Seattle, United States., Blanc P; SeqOIA Genomics Platform, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Dutta D; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Glass IA; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, United States.; Brotman Baty Institute, Seattle, United States., Chen J; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States., Blue E; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.; Brotman Baty Institute, Seattle, United States.; Institute for Public Health Genetics, University of Washington, Seattle, United States., Prontera P; Medical Genetics and Rare Diseases Unit, Hospital of Perugia, Perugia, Italy., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Center for the Study of Immune Deficiencies, Necker-Enfants Malades Hospital, AP-HP Centre, University of Paris, Paris, France., Marlin S; Genetics of Rare Ophthalmological, Auditory and Mitochondrial Disorders, Inserm UMR_S1163, Imagine Institute, Paris, France.; Reference Center for Genetic Deafness, Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, AP-HP Centre, University of Paris, Paris, France., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
Corporate Authors: Undiagnosed Diseases Network
Source: ELife [Elife] 2025 Aug 27; Vol. 13. Date of Electronic Publication: 2025 Aug 27.
Publication Type: Journal Article
Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE
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  Data: Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
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  Data: <searchLink fieldCode="AU" term="%22Ma+M%22">Ma M</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Zheng+Y%22">Zheng Y</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Deng+M%22">Deng M</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Lu+S%22">Lu S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Pan+X%22">Pan X</searchLink>; 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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Blieden+LS%22">Blieden LS</searchLink>; The Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Allworth+A%22">Allworth A</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.<br /><searchLink fieldCode="AU" term="%22Chen+WL%22">Chen WL</searchLink>; Department of Neurology, Baylor College of Medicine, Houston, United States.; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.<br /><searchLink fieldCode="AU" term="%22Merla+G%22">Merla G</searchLink>; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Mandriani+B%22">Mandriani B</searchLink>; Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Otten+CE%22">Otten CE</searchLink>; Department of Neurology, University of Washington and Seattle Children's Hospital, Seattle, United States.<br /><searchLink fieldCode="AU" term="%22Blanc+P%22">Blanc P</searchLink>; SeqOIA Genomics Platform, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Dutta+D%22">Dutta D</searchLink>; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Yamamoto+S%22">Yamamoto S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Wangler+MF%22">Wangler MF</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Glass+IA%22">Glass IA</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, United States.; Brotman Baty Institute, Seattle, United States.<br /><searchLink fieldCode="AU" term="%22Chen+J%22">Chen J</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.<br /><searchLink fieldCode="AU" term="%22Blue+E%22">Blue E</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.; Brotman Baty Institute, Seattle, United States.; 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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.<br /><searchLink fieldCode="AU" term="%22Bellen+HJ%22">Bellen HJ</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
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