{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T04:48:01Z","timestamp":1790830081566,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,27]],"date-time":"2019-07-27T00:00:00Z","timestamp":1564185600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Threonine Aspartase 1 (Taspase 1) is a highly conserved site\u2010specific protease whose substrates are broad\u2010acting nuclear transcription factors that govern diverse biological programs, such as organogenesis, oncogenesis, and tumor progression. To date, no single base pair mutations in Taspase 1 have been implicated in human disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A female infant with a new pattern of diagnostic abnormalities was identified, including severe craniofacial anomalies, anterior and posterior segment dysgenesis, immunodeficiency, and macrocytic anemia. Trio\u2010based whole exome sequencing was performed to identify disease\u2010causing variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole exome sequencing revealed a normal female karyotype (46,XX) without increased regions of homozygosity. The proband was heterozygous for a de novo missense variant, c.1027G&gt;A predicting p.(Val343Met), in the <jats:italic>TASP1<\/jats:italic> gene (NM_017714.2). This variant has not been observed in population databases and is predicted to be deleterious.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>One human patient has been reported previously with a large <jats:italic>TASP1<\/jats:italic> deletion and substantial evidence exists regarding the role of several known Taspase 1 substrates in human craniofacial and hematopoietic disorders. Moreover, Taspase 1 deficiency in mice results in craniofacial, ophthalmological and structural brain defects. Taken together, there exists substantial evidence to conclude that the <jats:italic>TASP1<\/jats:italic> variant, p.(Val343Met), is pathogenic in this patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.818","type":"journal-article","created":{"date-parts":[[2019,7,27]],"date-time":"2019-07-27T09:09:37Z","timestamp":1564218577000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1201-9908","authenticated-orcid":false,"given":"Daniel M.","family":"Balkin","sequence":"first","affiliation":[{"name":"Division of Plastic and Reconstructive Surgery, Department of Surgery University of California San Francisco San Francisco California"},{"name":"Craniofacial Center University of California San Francisco 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