RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

Clinical Genetics

Volumn 61, Issue 2, 2002, Pages 146-151

  Bonafe L ^a   Schmitt, K ^b   Eich, G ^c   Giedion, A ^a   Superti Furga, Andrea ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b KEPLER UNIVERSITY HOSPITAL   (Austria)

^c Division of Paediatric Radiology   (Switzerland)

Author keywords

Cartilage hair hypoplasia; Genetic mutations; Metaphyseal dysplasia; RMRP gene; Single nucleotide polymorphisms

Indexed keywords

ADENINE; CYTOSINE; GUANINE; RIBONUCLEASE; RNA; THYMINE;

ALLELE; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DISEASE; BONE DYSPLASIA; CARCINOGENESIS; CARTILAGE HYPOPLASIA; CASE REPORT; EPIPHYSIS; GENE MUTATION; GENE SEQUENCE; HAIR DISEASE; HOUSEKEEPING GENE; HUMAN; HYPOTHESIS; HYPOTRICHOSIS; IMMUNE DEFICIENCY; INFECTION SENSITIVITY; MALE; METAPHYSIS; NUCLEOTIDE SEQUENCE; PARENT; PHENOTYPE; PRIORITY JOURNAL; RECURRENCE RISK; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; BASE SEQUENCE; BONE AND BONES; CARTILAGE; CHILD; DNA MUTATIONAL ANALYSIS; HAIR; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RIBONUCLEASES;

EID: 0036488058     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610210.x     Document Type: Article

References (20)

1. Ridanpää M, van Eenennaarn H, Pelin K, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 2001: 104: 195-203.
2. Berthet F, Siegrist CA, Ozsahin H, et al. Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. European J Pediatr 1996: 155: 286-290.
3. Verloes A, Pierard GE, Le Merrer M, Maroteaux P. Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. J Med Genet 1990: 27: 693-696.
4. Makitie O, Perheentupa J, Kaitila I. Growth in cartilage-hair hypoplasia. Pediatr Res 1992: 31: 176-180.
5. Sbisa E, Pesole G, Tullo A, Saccone C. The evolution of the RNase P- and RNase MRP-associated RNAs: phylogenetic analysis and nucleotide substitution rate. J Mol Evol 1996: 43: 46-57.
6. Schmitt ME, Bennett X, Dairaghi DJ, Clayton DA. Secondary structure of RNase MRP RNA as predicted by phylogenetic comparison. FASEB J 1993: 7: 208-213.
7. Sachidanandam R, Weissman D, Schmidt SC, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001: 409: 928-933.
8. Tollervey D, Kiss T. Function and synthesis of small nucleolar RNAs. Current Opinion Cell Biol 1997: 9: 337-342.
9. Makitie O, Kaitila I. Cartilage-hair hypoplasia-clinical manifestations in 108 Finnish patients. Eur J Pediatr 1993: 152: 211-217.
10. Makitie O, Rajantie J, Kaitila I. Anaemia and macrocytosis-unrecognized features in cartilage-hair hypoplasia. Acta Paediatr 1992: 81: 1026-1029.
11. Makitie O, Juvonen E, Dunkel L, Kaitila I, Shines MA. Anemia in children with cartilage hair hypoplasia is related to body growth and to the insulin-like growth factor system. J Clin Endocrinol Metab 2000: 85: 563-568.
12. Makitie O, Kaitila I, Rintala R. Hirschsprung disease associated with severe cartilage-hair hypoplasia. J Pediatr 2001: 138: 929-931.
13. Makitie O, Pukkala E, Teppo L, Kaitila I. Increased incidence of cancer in patients with cartilage-hair hypoplasia. J Pediatr 1999: 134: 315-318.
14. Makitie O, Pukkala E, Kaitila I. Increased mortality in cartilage-hair hypoplasia. Arch Dis Child 2001: 84: 65-67.
15. Makitie O, Kaitila I, Savilaliti E. Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia. Eur J Pediatr 1998: 157: 816-820.
16. Makitie O, Kaitila I, Savilaliti E. Deficiency of humoral immunity in cartilage-hair hypoplasia. J Pediatr 2000: 137: 487-492.
17. van der Burgt I, Haraldsson A, Oosterwijk JC, van Essen AJ, Weemaes C, Hamel B. Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature. Am J Medical Genet 1991: 41: 371-380.
18. Castriota-Scanderbeg A, Dallapiccola B, Mingarelli R, Kozlowski K. Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. Am J Med Genet 2001: 99: 289-293.
19. Giedion A. Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. Pediatr Radiol 1998: 28: 751-758.
20. Le Merrer M, Maroteaux P. Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. Eur J Pediat 1991: 150: 847-851.