{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T12:40:19Z","timestamp":1753274419918},"reference-count":22,"publisher":"Cold Spring Harbor Laboratory","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and a predisposition to cancer, most commonly leukemias, although solid tumors are reported as well. Bloom syndrome occurs in multiple ethnic groups with a higher incidence in persons of Ashkenazi Jewish origin. Few patients of Hispanic ethnicity have been reported. We report here a Mexican American family with a <jats:italic>BLM<\/jats:italic> pathogenic variant, c.2506_2507delAG, previously reported in a single patient from Mexico. In this family of four siblings, three have phenotypic features of Bloom syndrome, and <jats:italic>BLM<\/jats:italic> gene mutation was homozygous in these affected individuals. Our proband developed a rhabdomyosarcoma. Analysis of surrounding markers in the germline DNA revealed a common haplotype, suggesting a previously unrecognized founder mutation in the Hispanic population of Mexican origin.<\/jats:p>","DOI":"10.1101\/mcs.a005751","type":"journal-article","created":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T16:59:46Z","timestamp":1617901186000},"page":"a005751","source":"Crossref","is-referenced-by-count":1,"title":["Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation"],"prefix":"10.1101","volume":"7","author":[{"given":"Erin H.","family":"Sybouts","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam D.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria G.","family":"Falcon-Cantrill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martha 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