Disease relevance of Chondrodysplasia Punctata

• A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy [1].
• X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia [1].
• The rhizomelic form of chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized biochemically by an impairment of plasmalogen biosynthesis and phytanate catabolism [2].
• Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti [3].
• The Conradi-Hünermann-Happle (CHH) syndrome (X-chromosomal dominant chondrodysplasia punctata type II; MIM 302960) is an X-linked dominant disorder that is characterized by ichthyosis, chondrodysplasia punctata, cataracts and short stature [4].

Psychiatry related information on Chondrodysplasia Punctata

• The boy manifested, due to nullisomy of this region, short stature (SHOX), chondrodysplasia punctata (ARSE), and mental retardation (putative mental retardation gene MRX 49) [5].

High impact information on Chondrodysplasia Punctata

• Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com [6].
• X-linked dominant Conradi-Hünermann syndrome (CDPX2; MIM 302960) is one of a group of disorders with aberrant punctate calcification in cartilage, or chondrodysplasia punctata (CDP) [7].
• The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes [8].
• Since 1998, five disorders involving enzyme defects in post-squalene cholesterol biosynthesis have been identified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolosis, and hydrops-ectopic calcification-moth-eaten skeletal dysplasia [9].
• We have isolated a gene, PKX1, by virtue of its position within the candidate region for chondrodysplasia punctata in Xp22 [10].

Chemical compound and disease context of Chondrodysplasia Punctata

• Mutations that disrupt EBP's 3beta-hydroxysteroid sterol delta8-delta7 isomerase activity (EC 5.3.3.5) impair cholesterol biosynthesis and cause X-chromosomal dominant chondrodysplasia punctata [11].
• However, coumarin during the first trimester has the teratogenic hazard of producing chondrodysplasia punctata [12].
• There has been previous evidence for a connection between phenytoin exposure during pregnancy and chondrodysplasia punctata [13].
• Despite our desire to recognize and codify distinct genetic disorders, this has not been possible in all cases, such as in DOC 17 (chondrodysplasia punctata syndromes), which almost certainly includes more than one genetic entity [14].
• We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31 [15].

Biological context of Chondrodysplasia Punctata

• X-linked chondrodysplasia punctata (CDPX) is a congenital disorder characterized by abnormalities in cartilage and bone development [16].
• The murine X-linked dominant mutation bare patches (Bpa) has a phenotype similar to and is likely homologous to human X-linked dominant chondrodysplasia punctata (CDPX2) [17].
• Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata [18].
• Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS [19].
• X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene [20].

Anatomical context of Chondrodysplasia Punctata

• The import into peroxisomes and maturation of peroxisomal 3-oxoacyl-CoA thiolase are impaired in patients with the Rhizomelic form of Chondrodysplasia Punctata (RCDP) [21].
• Importantly, cultured fibroblasts from patients with the rhizomelic form of chondrodysplasia punctata (RCDP) which are deficient for the PTS2 receptor protein, Pex7p, are unable to import the PTS2 reporter in this assay [22].

Gene context of Chondrodysplasia Punctata

• Mutation analysis indicated ARSE as the gene responsible for X-linked recessive chondrodysplasia punctata [23].
• This phenotype is distinct from, but shares various clinical and biochemical findings with chondrodysplasia punctata (CDPX2, MIM 302960) [24].
• Although the locus for X-linked recessive chondrodysplasia punctata (CDPX1) has been mapped to the region between PABX and DXS31 (the critical region is about 3 Mb long), the precise location within the critical region has not been determined [25].
• Our mapping studies also appear to exclude Bgn as a candidate gene for the bare patches (Bpa) mutation and for the homologous human disorder X-linked dominant chondrodysplasia punctata (CDPX2) [26].
• They were 27 patients with Zellweger syndrome (ZS), including two sib cases, three with neonatal adrenoleukodystrophy (NALD) and one with rhizomelic type chondrodysplasia punctata (RCDP) [27].

Analytical, diagnostic and therapeutic context of Chondrodysplasia Punctata

• The biglycan gene precisely maps to a region of the X chromosome, where, by comparative gene mapping, one would expect to find the gene for X-linked dominant chondrodysplasia punctata/ichthyosis/short stature (Happle) syndrome [28].
• Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion [15].

References