Molecular-pathogenetic classification of genetic disorders of the skeleton

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 106, Issue 4, 2001, Pages 282-293

  Superti Furga, Andrea ^a   Bonafé, Luisa ^a   Rimoin, David L ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Genetic disorders; Molecular classification; Pathogenic classification; Skeleton

Indexed keywords

DNA; HORMONE; NUCLEAR PROTEIN; RNA; TRANSCRIPTION FACTOR;

CHONDRODYSPLASIA; DISEASE CLASSIFICATION; DNA METABOLISM; GENE MUTATION; GENETIC DISORDER; HUMAN; ONCOGENE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN FOLDING; PROTEIN PROCESSING; REVIEW; RNA PROCESSING; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE;

EID: 0036165181     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10233     Document Type: Review

References (99)

1. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
2. Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families
3. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
4. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2 + -sensing receptor gene: Normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
5. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
6. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
7. Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations
8. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome
9. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
10. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
11. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
12. Brittle bones-fragile molecules: Disorders of collagen gene structure and expression
13. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
14. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
15. Etiological point mutations in the hereditary multiple exostoses gene EXT1: A functional analysis of heparan sulfate polymerase activity
16. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency
17. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome
18. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
19. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
20. The link between heparan sulfate and hereditary bone disease: Finding a function for the EXT family of putative tumor suppressor proteins
21. Mutations of the TWIST gene in the Saethre-Chotzen syndrome
22. A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
23. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
24. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
25. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
26. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
27. Human bone mass accrual is affected by mutations in the low density lipoprotein receptor-related protein 5 gene
28. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase
29. Computer diagnosis of skeletal dysplasias and malformation syndromes
30. Adenosine deaminase deficiency: Molecular basis and recent developments
31. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis
32. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
33. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansive osteolysis
34. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
35. Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene
36. International nomenclature and classification of the osteochondrodysplasias (1997)
37. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
38. Mutations in the gene encoding the latency-associated peptide of TGF-beta1 cause Camurati-Engelmann disease
39. The effect of Mendelian disease on human health
40. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome
41. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
42. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome
43. Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man
44. Disorders of lysosomal enzymes
45. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
46. The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate
47. Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia
48. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome
49. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
50. HayWells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
51. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
52. Mutations in a new gene, encoding a zincfinger protein, cause tricho-rhino-phalangeal syndrome type 1
53. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
54. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
55. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
56. Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome
57. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
58. AcylCoA:dihydroxyacetonephosphate acyltransferase: Cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2
59. Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex
60. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyl type B
61. Clinical spectrum of fibroblast growth factor receptor mutations
62. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
63. Mechanism of bone and cartilage maldevelopment in the warfarin embryopathy
64. Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: Clues to the mechanism of teracogenicity of coumarin derivatives
65. Mutations in CDMP1 cause autosomal dominant brachydactyly type C
66. Identification of a mutation in DLX3 associated with tricho-dentoosseus (TDO) syndrome
67. Molecular basis of osteogenesis imperfecta and related disorders of bone
68. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type- A/B; no phenotype prediction from the position of GLI3 mutations
69. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
70. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
71. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 Novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
72. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
73. PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification
74. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia
75. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia
76. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
77. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti
78. Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia
79. International classification of osteochondrodysplasias
80. The type XI collagenopathies
81. The type II collagenopathies: A spectrum of chondrodysplasias
82. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
83. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations
84. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
85. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
86. A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
87. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
88. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
89. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse
90. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
91. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
92. Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His - Tyr): Complete structure of the normal human CA II gene
93. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
94. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10AI) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia
95. Craniosynostosis: Genes and mechanisms
96. Functional haplo-insufficiency of the human homeobox gene MSX2 causes defects in skull ossification
97. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia