Novel Mutation in Boy With Cartilage-hair Hypoplasia
نویسندگان
چکیده
منابع مشابه
Novel mutation in boy with cartilage-hair hypoplasia.
BACKGROUND Cartilage-hair hypoplasia (MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. The clinical phenotypes include variable degrees of bone and hair dysplasia, deficient cellular and/or humoral immunity, and a predisposition to malignancy. METHODS We performed genetic studies of a patient with disproportionate short stature and brittle scalp hair. Geneti...
متن کاملCartilage Hair Hypoplasia: First report from Iran
Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as car...
متن کاملCartilage-hair hypoplasia (CHH)
Note: CHH was first described in the Amish, an isolated religious group in the USA by Victor McKusick in 1965. It is a multi-systemic disorder characterized by short stature, blond fine sparse hair, but this may be quite variable, and defective cellular immunity predominantly affecting T-cell mediated responses. Patients may have severe combined immunodeficiency, requiring bone marrow transplan...
متن کاملNovel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers. It is caused by mutations in RMRP, which is transcribed as an RNA component of the mitochondrial RNA-processing ribonuclease. We report the clinical and molecular...
متن کاملCartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.
Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. The skeletal abnormalities include irregular metaphyses and cone shaped epiphyses of the hands. Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with this condition.
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2010
ISSN: 1875-9572
DOI: 10.1016/s1875-9572(10)60063-0