miércoles, 26 de septiembre de 2007

Skeletal Dysplasia Phenotype Autosomal

http://www.orpha.net/actor/EuropaNews/2007/070925.html#10816

Specific RMRP mutations predict skeletal dysplasia phenotype Autosomal recessive skeletal dysplasias present a wide spectrum of phenotypes, including differing growth deficits, hair and cartilage dysplasia, defective erythrogenesis, and immunodeficiency.
Mutations in RMRP encoding a mitochondrial ribonuclease RNA component, are responsible for the clinical spectrum.
Analysing patient phenotypes of 13 different mutations, the authors show that mutations leading to a reduction of ribosomal RNA cleavage are more often linked to bone dysplasia while mutations provoking reduced cleavage in RNA messengers are more often linked to hair hypoplasia, immune deficiencies, and haematological abnormalities.
Read the PubMed abstract Am J Hum Genet ; 519-529 ; September 2007