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- Title
Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.
- Authors
Sybouts, Erin H.; Brown, Adam D.; Falcon-Cantrill, Maria G.; Thomas, Martha H.; DeNapoli, Thomas; Voeller, Julie; Yidong Chen; Tomlinson, Gail E.; Bishop, Alexander J. R.
- Abstract
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 BLM pathogenic variant, c.2506_2507delAG, previously reported in a single patient fromMexico. In this family of four siblings, three have phenotypic features of Bloom syndrome, and BLM 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.
- Subjects
BLOOM syndrome; RHABDOMYOSARCOMA; GENETIC mutation; IMMUNODEFICIENCY; ETHNIC groups
- Publication
Cold Spring Harbor Molecular Case Studies, 2021, Vol 7, Issue 2, p1
- ISSN
2373-2873
- Publication type
Article
- DOI
10.1101/mcs.a005751