New genetic abnormalities in non-21a-hydroxylase-deficiency congenital adrenal hyperplasia


Por: Martin, M, Najera, N, Garibay, N, Malanco, LM, Martinez, T, Rivera, J, Rivera, M, Queipo, G

Publicada: 1 ene 2013
Resumen:
Congenital adrenal hyperplasia comprises a group of autosomal recessive disorders of sexual differentiation and development that occur due to deficiencies in steroidogenic enzymes within the adrenal gland. Using clinical, biochemical, and sequencing data, we describe non-21a-hydroxylase deficiencies in 6 individuals from 4 families originating from endogamic regions in Mexico. Three individuals had 11ß- hydroxylase deficiencies caused by 2 hitherto unreported mutations (P442L substitution and an 11-bp insertion in exon 5 of CYP11B1), while 3 individuals had 17a-hydroxylase/17,20-lyase deficiencies. Sequence-tagged site analysis of 8 individuals from 1 endogamic region suggested that the mutations likely occurred as a result of a founder effect. Although non-21a-hydroxylase enzymatic defects are rare in most populations, characterization of new mutations is important in order to understand the demographic, clinical, biochemical, and molecular variations that exist, and for both active and preventative management in individuals and their communities. © 2013 S. Karger AG, Basel.

Filiaciones:
Martin, M:
 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Human Genet, Mexico City 04510, DF, Mexico

Najera, N:
 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Human Genet, Mexico City 04510, DF, Mexico

Garibay, N:
 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Human Genet, Mexico City 04510, DF, Mexico

Malanco, LM:
 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Endocrinol, Mexico City 04510, DF, Mexico

Martinez, T:
 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Human Genet, Mexico City 04510, DF, Mexico

Rivera, J:
 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Geriatr, Mexico City 04510, DF, Mexico

Rivera, M:
 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Human Genet, Mexico City 04510, DF, Mexico

Queipo, G:
 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Geriatr, Mexico City 04510, DF, Mexico

 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Human Genet, Mexico City 04510, DF, Mexico

 Univ Nacl Autonoma Mexico, Fac Med, Mexico City 04510, DF, Mexico

 Univ Nacl Autonoma Mexico, Hosp Gen Mexico, Dept Endocrinol, Mexico City 04510, DF, Mexico
ISSN: 16615425
Editorial
KARGER, ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND, Suiza
Tipo de documento: Article
Volumen: 7 Número: 6
Páginas: 289-294
WOS Id: 000328261400003
ID de PubMed: 24334966