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However, it has recently been added to the differential diagnosis of MAD, a newly defined syndrome, called MDPS. MDPS is a skeletal dysplasia characterized by postnatal growth retardation, hypotonia, generalized lipodystrophy, skin changes, progeroid traits, and dysmorphic facial features, including prominent eyes, long pinched nose, mandibular hypoplasia, and a small mouth. Biallelic null variants of the <jats:italic>MTX2<\/jats:italic> gene are responsible for this syndrome. We performed whole\u2010exome sequencing (WES) in a 6\u2010year\u2010old patient with skeletal dysplasia. WES revealed a novel homozygous c.543+1G&gt;T splice site variant in the <jats:italic>MTX2<\/jats:italic> gene. We also extracted total RNA from peripheral blood and used reverse transcription\u2010polymerase chain reaction to generate cDNA. Sanger sequencing from cDNA showed that exon 8 of <jats:italic>MTX2<\/jats:italic> was skipped. This study adds to the genetics and phenotype of MDPS and underlines the importance of comprehensive clinical and molecular research.<\/jats:p>","DOI":"10.1002\/ajmg.a.63010","type":"journal-article","created":{"date-parts":[[2022,10,21]],"date-time":"2022-10-21T13:55:00Z","timestamp":1666360500000},"page":"173-182","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A novel <scp><i>MTX2<\/i><\/scp> gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome"],"prefix":"10.1002","volume":"191","author":[{"given":"Burcu","family":"Yeter Do\u011fan","sequence":"first","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics Kayseri City Education and Research Hospital  Kayseri 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