Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation

Erin H. Sybouts, Adam D. Brown, Maria G. Falcon-Cantrill, Martha H. Thomas, Thomas DeNapoli, Julie Voeller, Yidong Chen, Gail Tomlinson, Alexander J.R. Bishop

Research output: Contribution to journalArticlepeer-review


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 from Mexico. 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.

Original languageEnglish (US)
JournalCold Spring Harbor molecular case studies
Issue number2
StatePublished - Apr 1 2021


  • embryonal rhabdomyosarcoma
  • moderately short stature
  • rhabdomyosarcoma

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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