PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurr...
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| Published in | American journal of human genetics Vol. 95; no. 1; pp. 96 - 107 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
03.07.2014
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 1537-6605 |
| DOI | 10.1016/j.ajhg.2014.05.007 |
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| Abstract | Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Functional studies of the disease-associated PGM3 variants in E. coli cells demonstrated reduced PGM3 activity for all mutants tested. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. Two children received hematopoietic stem cell transplantation of cord blood and bone marrow from matched related donors; both had successful engraftment and correction of neutropenia and lymphopenia. We define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes. |
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| AbstractList | Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Functional studies of the disease-associated PGM3 variants in E. coli cells demonstrated reduced PGM3 activity for all mutants tested. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. Two children received hematopoietic stem cell transplantation of cord blood and bone marrow from matched related donors; both had successful engraftment and correction of neutropenia and lymphopenia. We define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes. Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Functional studies of the disease-associated PGM3 variants in E. coli cells demonstrated reduced PGM3 activity for all mutants tested. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. Two children received hematopoietic stem cell transplantation of cord blood and bone marrow from matched related donors; both had successful engraftment and correction of neutropenia and lymphopenia. We define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes. Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Functional studies of the disease-associated PGM3 variants in E. coli cells demonstrated reduced PGM3 activity for all mutants tested. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. Two children received hematopoietic stem cell transplantation of cord blood and bone marrow from matched related donors; both had successful engraftment and correction of neutropenia and lymphopenia. We define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes.Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Functional studies of the disease-associated PGM3 variants in E. coli cells demonstrated reduced PGM3 activity for all mutants tested. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. Two children received hematopoietic stem cell transplantation of cord blood and bone marrow from matched related donors; both had successful engraftment and correction of neutropenia and lymphopenia. We define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes. |
| Author | Muzny, Donna M. Krüger, Marcus Ehl, Stephan Boerwinkle, Eric A. Abrahamsen, Tore G. Rønnestad, Arild Osnes, Liv T. Lausch, Ekkehart Erichsen, Hans Christian Speckmann, Carsten Egeland, Torstein Patel, Ankita Sasa, Ghadir S. Nishimura, Gen Sorte, Hanne S. Mørkrid, Lars Jhangiani, Shalini N. Chokshi, Niti Y. Abraham, Shirley M. Gibbs, Richard A. Lupski, James R. Raymond, Kimiyo M. Stray-Pedersen, Asbjørg Martinez, Caridad A. Rødningen, Olaug K. Bjørås, Magnar Rustad, Cecilie F. Beck, Christine R. Hall, Patricia Hanson, I. Celine Wlodarski, Marcin W. Krance, Robert A. Orange, Jordan S. Backe, Paul H. Merckoll, Else Westvik, Jostein Forbes, Lisa R. Gambin, Tomasz Elgstøen, Katja B.P. |
| AuthorAffiliation | 16 Emory Genetics Laboratory, Department of Human Genetics, Emory University, Decatur, GA 30033, USA 17 Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway 13 Department of Laboratory Medicine and Pathology, Mayo College of Medicine, Rochester, MN 55905, USA 10 Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany 8 Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA 18 Department of Pediatric Imaging, Tokyo Metropolitan Children’s Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan 9 Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway 12 Medical Genetics Laboratories, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA 3 Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX 77030, US |
| AuthorAffiliation_xml | – name: 18 Department of Pediatric Imaging, Tokyo Metropolitan Children’s Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan – name: 7 Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway – name: 15 Pediatric Hematology Oncology, University of New Mexico, Albuquerque, NM 87106, USA – name: 5 Department of Microbiology, Oslo University Hospital, 0424 Oslo, Norway – name: 9 Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway – name: 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – name: 8 Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA – name: 10 Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany – name: 16 Emory Genetics Laboratory, Department of Human Genetics, Emory University, Decatur, GA 30033, USA – name: 3 Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX 77030, USA – name: 19 Department of Immunology and Transfusion Medicine, Oslo University Hospital, 0424 Oslo, Norway – name: 12 Medical Genetics Laboratories, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – name: 11 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA – name: 4 Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway – name: 20 Human Genetics Center, University of Texas Health Science Center, Houston, TX 77030, USA – name: 2 Center for Human Immunobiology, Texas Children’s Hospital, Houston, TX 77030, USA – name: 14 Center for Cell and Gene Therapy and Texas Children’s Cancer and Hematology Centers, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX 77030, USA – name: 6 Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway – name: 17 Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway – name: 13 Department of Laboratory Medicine and Pathology, Mayo College of Medicine, Rochester, MN 55905, USA |
| Author_xml | – sequence: 1 givenname: Asbjørg surname: Stray-Pedersen fullname: Stray-Pedersen, Asbjørg email: strayped@bcm.edu organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 2 givenname: Paul H. surname: Backe fullname: Backe, Paul H. organization: Department of Microbiology, Oslo University Hospital, 0424 Oslo, Norway – sequence: 3 givenname: Hanne S. surname: Sorte fullname: Sorte, Hanne S. organization: Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway – sequence: 4 givenname: Lars surname: Mørkrid fullname: Mørkrid, Lars organization: Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway – sequence: 5 givenname: Niti Y. surname: Chokshi fullname: Chokshi, Niti Y. organization: Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX 77030, USA – sequence: 6 givenname: Hans Christian surname: Erichsen fullname: Erichsen, Hans Christian organization: Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway – sequence: 7 givenname: Tomasz surname: Gambin fullname: Gambin, Tomasz organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 8 givenname: Katja B.P. surname: Elgstøen fullname: Elgstøen, Katja B.P. organization: Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway – sequence: 9 givenname: Magnar surname: Bjørås fullname: Bjørås, Magnar organization: Department of Microbiology, Oslo University Hospital, 0424 Oslo, Norway – sequence: 10 givenname: Marcin W. surname: Wlodarski fullname: Wlodarski, Marcin W. organization: Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany – sequence: 11 givenname: Marcus surname: Krüger fullname: Krüger, Marcus organization: Department of Pediatrics, Freiburg University Hospital, 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Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway – sequence: 29 givenname: Arild surname: Rønnestad fullname: Rønnestad, Arild organization: Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway – sequence: 30 givenname: Liv T. surname: Osnes fullname: Osnes, Liv T. organization: Department of Immunology and Transfusion Medicine, Oslo University Hospital, 0424 Oslo, Norway – sequence: 31 givenname: Torstein surname: Egeland fullname: Egeland, Torstein organization: Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway – sequence: 32 givenname: Olaug K. surname: Rødningen fullname: Rødningen, Olaug K. organization: Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway – sequence: 33 givenname: Christine R. surname: Beck fullname: Beck, Christine R. organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 34 givenname: Eric A. surname: Boerwinkle 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Celine surname: Hanson fullname: Hanson, I. Celine organization: Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX 77030, USA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24931394$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | Bone Diseases, Developmental - genetics Congenital diseases Congenital Disorders of Glycosylation - genetics E coli Escherichia coli Female Genomics Genotype & phenotype Glycosylation Humans Immunologic Deficiency Syndromes - genetics Male Mutation Pedigree Phosphoglucomutase - genetics Stem cells |
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