PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India
Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy. The patient, a 12-year-old girl born to healthy consanguineous parents,...
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Georg Thieme Verlag KG
2023-06-01
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| Series: | Global Medical Genetics |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1769494 |
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| author | N. Sreedevi N. Swapna Santosh Maruthy H.S. Meghavathi Charles Sylvester |
| author_facet | N. Sreedevi N. Swapna Santosh Maruthy H.S. Meghavathi Charles Sylvester |
| author_sort | N. Sreedevi |
| collection | DOAJ |
| description | Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy. The patient, a 12-year-old girl born to healthy consanguineous parents, was diagnosed with cerebral palsy as a child. The affected patient has hypotonia, inadequate speech, strabismus, and developmental delay with mild mental retardation, which are key symptoms of CDG. Whole-exome sequencing (WES) identified the known missense pathogenic variant PMM2 c.710 C > T, p.T237M in the patient coding for the phosphomannomutase 2 (PMM2) confirming molecular testing of CDG. The patient's parents carried heterozygous PMM2 c.710 C > T variants. This study highlights the importance of WES in patients with a developmental disability or other neurological conditions, which is also useful in screening risk factors in couples with infertility or miscarriage issues. |
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| institution | Directory Open Access Journal |
| issn | 2699-9404 |
| language | English |
| last_indexed | 2024-03-13T07:58:56Z |
| publishDate | 2023-06-01 |
| publisher | Georg Thieme Verlag KG |
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| series | Global Medical Genetics |
| spelling | doaj.art-2b66589928614bfc8e5ed01baa054e8d2023-06-01T23:03:44ZengGeorg Thieme Verlag KGGlobal Medical Genetics2699-94042023-06-01100210510810.1055/s-0043-1769494PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South IndiaN. Sreedevi0N. Swapna1Santosh Maruthy2H.S. Meghavathi3Charles Sylvester4Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, IndiaDepartment of Speech-Language Pathology, All India Institute of Speech and Hearing, Mysore, Karnataka, IndiaDepartment of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, IndiaUnit for Human Genetics, All India Institute of Speech and Hearing, Mysore, Karnataka, IndiaUnit for Human Genetics, All India Institute of Speech and Hearing, Mysore, Karnataka, IndiaCongenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy. The patient, a 12-year-old girl born to healthy consanguineous parents, was diagnosed with cerebral palsy as a child. The affected patient has hypotonia, inadequate speech, strabismus, and developmental delay with mild mental retardation, which are key symptoms of CDG. Whole-exome sequencing (WES) identified the known missense pathogenic variant PMM2 c.710 C > T, p.T237M in the patient coding for the phosphomannomutase 2 (PMM2) confirming molecular testing of CDG. The patient's parents carried heterozygous PMM2 c.710 C > T variants. This study highlights the importance of WES in patients with a developmental disability or other neurological conditions, which is also useful in screening risk factors in couples with infertility or miscarriage issues.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1769494 pmm2-cdgcerebral palsymutationsouth india |
| spellingShingle | N. Sreedevi N. Swapna Santosh Maruthy H.S. Meghavathi Charles Sylvester PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India Global Medical Genetics pmm2-cdg cerebral palsy mutation south india |
| title | PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India |
| title_full | PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India |
| title_fullStr | PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India |
| title_full_unstemmed | PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India |
| title_short | PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India |
| title_sort | pmm2 cdg t237m mutation in a patient with cerebral palsy like phenotypes reported from south india |
| topic | pmm2-cdg cerebral palsy mutation south india |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1769494 |
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