A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
Clin Genet
; 88(1): 74-9, 2015 Jul.
Article
en En
| MEDLINE
| ID: mdl-24989235
ABSTRACT
Osteopetrosis is a rare and heterogeneous genetic disorder characterized by dense bone mass that is a consequence of defective osteoclast function and/or development. Autosomal recessive osteopetrosis (ARO) is the most severe form and is often fatal within the first years of life; early hematopoietic stem cell transplant (HSCT) remains the only curative treatment for ARO. The majority of the ARO-causing mutations are located in the TCIRG1 gene. We report here the identification and characterization of an A to T transversion in the fourth base of the intron 2 donor splice site (c.117+4AâT) in TCIRG1, a mutation not previously seen in the Ashkenazi Jewish (AJ) population. Analysis of a random sample of individuals of AJ descent revealed a carrier frequency of approximately 1 in 350. Genotyping of five loci adjacent to the c.117+4AâT-containing TCIRG1 allele revealed that the presence of this mutation in the AJ population is due to a single founder. The identification of this mutation will enable population carrier testing and will facilitate the identification and treatment of individuals homozygous for this mutation.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteopetrosis
/
Mutación Puntual
/
Efecto Fundador
/
Sitios de Empalme de ARN
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ATPasas de Translocación de Protón Vacuolares
Tipo de estudio:
Etiology_studies
Límite:
Humans
/
Infant
Idioma:
En
Revista:
Clin Genet
Año:
2015
Tipo del documento:
Article
País de afiliación:
Estados Unidos