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Exome sequencing in the affected subjects identified a novel homozygous RAB3GAP2 missense variant as the potential causal variant. As <jats:italic>RAB3GAP2<\/jats:italic> has been recently shown to be involved in the autophagy process, we analyzed patient\u2010derived fibroblasts by fluorescence microscopy and demonstrated defective autophagic flux under rapamycin and serum starvation conditions when compared with wild\u2010type cells. The phenotype in the siblings described here is distinct from Martsolf and Warburg's micro syndromes, the currently known diseases arising from <jats:italic>RAB3GAP2<\/jats:italic> pathogenic variants. Thus, this work describes a potentially novel recessive phenotype associated with a <jats:italic>RAB3GAP2<\/jats:italic> defect and manifesting as a muscular dystrophy<jats:bold>\u2013<\/jats:bold>short stature disorder with no ocular anomalies. Functional analyses indicated defective autophagy in patient\u2010derived fibroblasts, supporting the involvement of <jats:italic>RAB3GAP2<\/jats:italic> in the etiology of this disorder. Our results contribute to a better characterization of the Martsolf\/micro spectrum phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.62723","type":"journal-article","created":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T09:19:46Z","timestamp":1646990386000},"page":"1972-1978","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A new missense variant in <i>RAB3GAP2<\/i> in a family with muscular dystrophy\u2013short stature and defective autophagy: An expansion of the micro\/Martsolf spectrum or a new phenotype?"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0237-7472","authenticated-orcid":false,"given":"German A.","family":"Mora\u2010Roldan","sequence":"first","affiliation":[{"name":"Research Unit, Genetics Department Institute of Ophthalmology \u201cConde de Valenciana\u201d  Mexico City Mexico"},{"name":"Biomedical Research Institute, Department of Genomic Medicine National Autonomous University of Mexico  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Galaviz\u2010Hernandez","sequence":"additional","affiliation":[{"name":"Academia De Gen\u00f3mica, Instituto Polit\u00e9cnico Nacional\u2014CIIDIR Durango  Durango Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"Hiebert\u2010Froese","sequence":"additional","affiliation":[{"name":"Clinica Medica Sur del Carmen  Durango Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Institute of Cellular Physiology, Department of Cognitive Neuroscience National Autonomous University of Mexico  Mexico City Mexico"},{"name":"National Laboratory of Channelopathies National Autonomous University of Mexico  Mexico City 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