Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.
Cold Spring Harb Mol Case Stud
; 7(2)2021 04.
Article
en En
| MEDLINE
| ID: mdl-33832920
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 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Rabdomiosarcoma
/
Síndrome de Bloom
/
Americanos Mexicanos
/
Mutación
Límite:
Child, preschool
/
Humans
/
Male
País/Región como asunto:
Mexico
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos