29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation. The phenotype encompasses a wide range of neurological and non-neurological manifestations comprising cerebellar atrophy and intellectual deficiency. The phenotype of th...

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Main Authors:	Monin, Marie-Lorraine, Mignot, Cyril, De Lonlay, Pascale, Héron, Bénédicte, Masurel, Alice, Mathieu-Dramard, Michèle, Lenaerts, Catherine, Thauvin, Christel, Gérard, Marion, Roze, Emmanuel, Jacquette, Aurélia, Charles, Perrine, de Baracé, Claire, Drouin-Garraud, Valérie, Van Kien, Philippe Khau, Cormier-Daire, Valérie, Mayer, Michèle, Ogier, Hélène, Brice, Alexis, Seta, Nathalie, Héron, Delphine
Format:	Online
Language:	English
Published:	BioMed Central 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266234/

id	pubmed-4266234
recordtype	oai_dc
spelling	pubmed-42662342014-12-16 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype Monin, Marie-Lorraine Mignot, Cyril De Lonlay, Pascale Héron, Bénédicte Masurel, Alice Mathieu-Dramard, Michèle Lenaerts, Catherine Thauvin, Christel Gérard, Marion Roze, Emmanuel Jacquette, Aurélia Charles, Perrine de Baracé, Claire Drouin-Garraud, Valérie Van Kien, Philippe Khau Cormier-Daire, Valérie Mayer, Michèle Ogier, Hélène Brice, Alexis Seta, Nathalie Héron, Delphine Research PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation. The phenotype encompasses a wide range of neurological and non-neurological manifestations comprising cerebellar atrophy and intellectual deficiency. The phenotype of the disorder is well characterized in children but the long term course of the disease is unknown and the phenotype of late onset forms has not been comprehensively described. We thus retrospectively collected the clinical, biological and radiological data of 29 French PMM2-CDG patients aged 15 years or more with a proven molecular diagnosis (16 females and 13 males). In addition, thirteen of these patients were reexamined at the time of the study to obtain detailed information. 27 of the 29 patients had a typical PMM2-CDG phenotype, with infantile hypotonia, strabismus, developmental delay followed by intellectual deficiency, epilepsy, retinitis pigmentosa and/or visceral manifestations. The main health problems for these patients as teenagers and in adulthood were primary ovarian insufficiency, growth retardation, coagulation anomalies and thrombotic events, skeletal deformities and osteopenia/osteoporosis, retinitis pigmentosa, as well as peripheral neuropathy. Three patients had never walked and three lost their ability to walk. The two remaining patients had a late-onset phenotype unreported to date. All patients (n = 29) had stable cerebellar atrophy. Our findings are in line with those of previous adult PMM2-CDG cohorts and points to the need for a multidisciplinary approach to the follow up of PMM2-CDG patients to prevent late complications. Additionally, our findings add weight to the view that PMM2-CDG may be diagnosed in teenage/adult patients with cerebellar atrophy, even in the absence of intellectual deficiency or non-neurological involvement. BioMed Central 2014-12-11 /pmc/articles/PMC4266234/ /pubmed/25497157 http://dx.doi.org/10.1186/s13023-014-0207-4 Text en © Monin et al.; licensee BioMed Central Ltd. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Monin, Marie-Lorraine Mignot, Cyril De Lonlay, Pascale Héron, Bénédicte Masurel, Alice Mathieu-Dramard, Michèle Lenaerts, Catherine Thauvin, Christel Gérard, Marion Roze, Emmanuel Jacquette, Aurélia Charles, Perrine de Baracé, Claire Drouin-Garraud, Valérie Van Kien, Philippe Khau Cormier-Daire, Valérie Mayer, Michèle Ogier, Hélène Brice, Alexis Seta, Nathalie Héron, Delphine
spellingShingle	Monin, Marie-Lorraine Mignot, Cyril De Lonlay, Pascale Héron, Bénédicte Masurel, Alice Mathieu-Dramard, Michèle Lenaerts, Catherine Thauvin, Christel Gérard, Marion Roze, Emmanuel Jacquette, Aurélia Charles, Perrine de Baracé, Claire Drouin-Garraud, Valérie Van Kien, Philippe Khau Cormier-Daire, Valérie Mayer, Michèle Ogier, Hélène Brice, Alexis Seta, Nathalie Héron, Delphine 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
author_facet	Monin, Marie-Lorraine Mignot, Cyril De Lonlay, Pascale Héron, Bénédicte Masurel, Alice Mathieu-Dramard, Michèle Lenaerts, Catherine Thauvin, Christel Gérard, Marion Roze, Emmanuel Jacquette, Aurélia Charles, Perrine de Baracé, Claire Drouin-Garraud, Valérie Van Kien, Philippe Khau Cormier-Daire, Valérie Mayer, Michèle Ogier, Hélène Brice, Alexis Seta, Nathalie Héron, Delphine
author_sort	Monin, Marie-Lorraine
title	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
title_short	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
title_full	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
title_fullStr	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
title_full_unstemmed	29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
title_sort	29 french adult patients with pmm2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
description	PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation. The phenotype encompasses a wide range of neurological and non-neurological manifestations comprising cerebellar atrophy and intellectual deficiency. The phenotype of the disorder is well characterized in children but the long term course of the disease is unknown and the phenotype of late onset forms has not been comprehensively described. We thus retrospectively collected the clinical, biological and radiological data of 29 French PMM2-CDG patients aged 15 years or more with a proven molecular diagnosis (16 females and 13 males). In addition, thirteen of these patients were reexamined at the time of the study to obtain detailed information. 27 of the 29 patients had a typical PMM2-CDG phenotype, with infantile hypotonia, strabismus, developmental delay followed by intellectual deficiency, epilepsy, retinitis pigmentosa and/or visceral manifestations. The main health problems for these patients as teenagers and in adulthood were primary ovarian insufficiency, growth retardation, coagulation anomalies and thrombotic events, skeletal deformities and osteopenia/osteoporosis, retinitis pigmentosa, as well as peripheral neuropathy. Three patients had never walked and three lost their ability to walk. The two remaining patients had a late-onset phenotype unreported to date. All patients (n = 29) had stable cerebellar atrophy. Our findings are in line with those of previous adult PMM2-CDG cohorts and points to the need for a multidisciplinary approach to the follow up of PMM2-CDG patients to prevent late complications. Additionally, our findings add weight to the view that PMM2-CDG may be diagnosed in teenage/adult patients with cerebellar atrophy, even in the absence of intellectual deficiency or non-neurological involvement.
publisher	BioMed Central
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266234/
_version_	1613167586401320960

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

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