{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T15:05:19Z","timestamp":1771686319602,"version":"3.50.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"02","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Glob Med Genet"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2009&gt;\u2009T, 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\u2009&gt;\u2009T 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.<\/jats:p>","DOI":"10.1055\/s-0043-1769494","type":"journal-article","created":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T23:15:00Z","timestamp":1685661300000},"page":"105-108","source":"Crossref","is-referenced-by-count":3,"title":["PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India"],"prefix":"10.1016","volume":"10","author":[{"given":"N.","family":"Sreedevi","sequence":"additional","affiliation":[{"name":"Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Swapna","sequence":"additional","affiliation":[{"name":"Department of Speech-Language Pathology, All India Institute of Speech 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