Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing
Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including ACTG2 (autosomal dominant) and MYH11 (autosomal r...
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doaj-01d981b45edc49e59f73a5858b0b787c2020-11-25T02:50:14ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-09-0124100621Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencingAuriane Cospain0Christèle Dubourg1Swellen Gastineau2Samia Pichard3Virginie Gandemer4Jacinthe Bonneau5Marie de Tayrac6Caroline Moreau7Sylvie Odent8Laurent Pasquier9Lena Damaj10Alinoë Lavillaureix11CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, FranceUniv Rennes, CNRS, IGDR, UMR 6290, Rennes F-35000, France; Service de Génétique Moléculaire et Génomique, CHU, Rennes F-35033, FranceDepartment of Pediatrics, Rennes University Hospital, Rennes, FranceDepartment of neuropediatrics and Metabolism, Reference Center of Inherited Metabolic Disorders, Robert Debré Hospital, Paris, FranceDepartment of Pediatric onco-Haematology, Rennes University Hospital, University Rennes1, Rennes, FranceDepartment of Pediatric onco-haematology, Rennes university hospital, Rennes, FranceUniv Rennes, CNRS, IGDR, UMR 6290, Rennes F-35000, France; Service de Génétique Moléculaire et Génomique, CHU, Rennes F-35033, FranceUniv Rennes, INSERM, INRA, Institut NuMeCan, Laboratoire de Biochimie-Toxicologie, Hôpital Pontchaillou CHU Rennes, 2 rue Henri Le Guilloux, 35000 Rennes, FranceCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes F-35000, FranceCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, FranceCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France; Department of Pediatrics, Competence Center of Inherited Metabolic Disorders, Rennes Hospital, Rennes, FranceCHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes F-35000, France; Corresponding author at: Service de génétique clinique, CHU de Rennes-Hôpital Sud, 16 Boulevard de Bulgarie 35203 Rennes, France.Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including ACTG2 (autosomal dominant) and MYH11 (autosomal recessive).We report the first case of unexpected trio medical exome sequencing diagnosis of mucopolysaccharidosis type I (MPS-I) in a patient with an early CIPO. There was no clinical suspicion of MPS-I at the time of the prescription. It allowed biochemical confirmation of MPS-I, expert clinical evaluation and early treatment. Enzyme replacement therapy (ERT) with laronidase was started at 9 months old, and hematopoietic stem cell transplantation was carried out at 10 months and a half. The patient also had a 1.7 mb heterozygous deletion in chromosomal region 16p13.11p12.3, comprising several genes, including MYH11, paternally inherited. Her father has no symptoms of CIPO or other digestive symptoms. One previous association of CIPO and MPS-I was reported in 1986. Moreover, the number of incidental findings of inherited metabolic disorders with therapeutic impact will inevitably increase as pangenomic analyses become cheaper and easily available.http://www.sciencedirect.com/science/article/pii/S2214426920300677Mucopolysaccharidosis type IHurler-Scheie diseaseExome sequencingChronic intestinal pseudoobstructionIncidental findingMYH11 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Auriane Cospain Christèle Dubourg Swellen Gastineau Samia Pichard Virginie Gandemer Jacinthe Bonneau Marie de Tayrac Caroline Moreau Sylvie Odent Laurent Pasquier Lena Damaj Alinoë Lavillaureix |
spellingShingle |
Auriane Cospain Christèle Dubourg Swellen Gastineau Samia Pichard Virginie Gandemer Jacinthe Bonneau Marie de Tayrac Caroline Moreau Sylvie Odent Laurent Pasquier Lena Damaj Alinoë Lavillaureix Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing Molecular Genetics and Metabolism Reports Mucopolysaccharidosis type I Hurler-Scheie disease Exome sequencing Chronic intestinal pseudoobstruction Incidental finding MYH11 |
author_facet |
Auriane Cospain Christèle Dubourg Swellen Gastineau Samia Pichard Virginie Gandemer Jacinthe Bonneau Marie de Tayrac Caroline Moreau Sylvie Odent Laurent Pasquier Lena Damaj Alinoë Lavillaureix |
author_sort |
Auriane Cospain |
title |
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing |
title_short |
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing |
title_full |
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing |
title_fullStr |
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing |
title_full_unstemmed |
Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing |
title_sort |
incidental diagnosis of mucopolysaccharidosis type i in an infant with chronic intestinal pseudoobstruction by exome sequencing |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2020-09-01 |
description |
Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including ACTG2 (autosomal dominant) and MYH11 (autosomal recessive).We report the first case of unexpected trio medical exome sequencing diagnosis of mucopolysaccharidosis type I (MPS-I) in a patient with an early CIPO. There was no clinical suspicion of MPS-I at the time of the prescription. It allowed biochemical confirmation of MPS-I, expert clinical evaluation and early treatment. Enzyme replacement therapy (ERT) with laronidase was started at 9 months old, and hematopoietic stem cell transplantation was carried out at 10 months and a half. The patient also had a 1.7 mb heterozygous deletion in chromosomal region 16p13.11p12.3, comprising several genes, including MYH11, paternally inherited. Her father has no symptoms of CIPO or other digestive symptoms. One previous association of CIPO and MPS-I was reported in 1986. Moreover, the number of incidental findings of inherited metabolic disorders with therapeutic impact will inevitably increase as pangenomic analyses become cheaper and easily available. |
topic |
Mucopolysaccharidosis type I Hurler-Scheie disease Exome sequencing Chronic intestinal pseudoobstruction Incidental finding MYH11 |
url |
http://www.sciencedirect.com/science/article/pii/S2214426920300677 |
work_keys_str_mv |
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