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A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.

Abstract：

:Cartilage-hair hypoplasia (CHH), or McKusick type metaphyseal chondrodysplasia, was first recognized as a distinct entity in the Old Order Amish in the USA, but was later identified in other groups, and found to be unusually frequent among Finns. CHH is highly pleiotropic with manifestations that include short stature, defective cellular immunity and predisposition to several cancers. CHH is caused by mutations in the RNA component of RNase MRP (RMRP, ribonuclease mitochondrial RNA processing) and is transmitted as an autosomal recessive trait. In the present work, a Spanish CHH patient was extensively characterized at the immunological and molecular DNA level. Several parameters of cellular and humoral immunity were analyzed in this patient: lymphocyte subpopulation, proliferative responsiveness in mitogen stimulation and quantification of serum immunoglobulins. Sequencing of the RMRP gene allowed identification of two mutations in the patient: a +4 C>T substitution previously described on one allele, and a duplication of 15 nucleotides at position -11 on the other allele. This mutation has not previously been described.

journal_name

Immunobiology

journal_title

Immunobiology

authors

Muñoz-Robles J,Allende LM,Clemente J,Calleja S,Varela P,Gonzalez L,de Pablos P,Paz E,Morales P

doi

10.1016/j.imbio.2006.05.001

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

753-7

issue

9

eissn

0171-2985

issn

1878-3279

pii

S0171-2985(06)00054-4

journal_volume

211

pub_type

杂志文章

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