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This disease presents a large variety of pathogenic variants, which cause a wide phenotypical spectrum. This diversity, together with the low number of affected patients, raises the challenge of determining genotype\u2013phenotype correlations in PMM2-CDG. This type of correlation could be highly significant in determining disease progression, prognosis, severity and in developing genome-personalized therapies. Structural analyses offer a valuable approach for assessing the pathogenic mechanisms within the PMM2 protein structure at a molecular level. Such an approach can reveal novel insights into the consequences of missense variants and their relationship with patients'phenotype. In this comprehensive review, we evaluate at a structural level 41 missense mutations in PMM2-CDG, examining their phenotypical characteristics and clinical severity, protein properties and interference at the enzymatic level. This work broadens the understanding of the intricate relationships between genotype and clinical manifestations of PMM2-CDG.<\/jats:p>","DOI":"10.1186\/s13023-025-03669-5","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T07:48:43Z","timestamp":1745999323000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A comprehensive update of genotype\u2013phenotype correlations in PMM2-CDG: insights from molecular and structural analyses"],"prefix":"10.1186","volume":"20","author":[{"given":"Tiago","family":"Oliveira","sequence":"first","affiliation":[]},{"given":"Ricardo","family":"Ferraz","sequence":"additional","affiliation":[]},{"given":"Lu\u00edsa","family":"Azevedo","sequence":"additional","affiliation":[]},{"given":"Dulce","family":"Quelhas","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o","family":"Carneiro","sequence":"additional","affiliation":[]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6560-5284","authenticated-orcid":false,"given":"S\u00e9rgio F.","family":"Sousa","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2025,4,30]]},"reference":[{"issue":"4","key":"3669_CR1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. 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