![]() (1995) demonstrated a deficiency of a heat-labile arylsulfatase activity in patients with deletions spanning the CDPX region. Expression of the gene in COS cells resulted in a heat-labile arylsulfatase activity that is inhibited by warfarin. Point mutations in ARSE were identified in 5 patients with CDPX ( 300180.0001- 300180.0005). (1995) cloned the genomic region within Xp22.3 where the gene related to CDPX is located and isolated 3 adjacent genes showing highly significant homology to the sulfatase gene family: arylsulfatase D ( 300002), arylsulfatase E (ARSE), and arylsulfatase F ( 300003). Her son did not show Madelung deformity, demonstrating that the Leri-Weill syndrome phenotype may be incomplete in children with SHOX gene deletion.įranco et al. She was shown to be a carrier of the same aberrant X chromosome. The patient's mother had dwarfism and showed Madelung deformity of the forearms. Brachytelephalangy was the only result of ARSE gene deletion in this patient. It was suspected that the patient was suffering from chondrodysplasia punctata because of a loss of the ARSE gene however, no stippled epiphyses were seen in the neonatal radiograph. Fluorescence in situ hybridization and molecular studies localized the breakpoints on Xp22.3 in the immediate vicinity of the KAL gene and demonstrated deletions of steroid sulfatase, arylsulfatase E, and short stature homeobox (SHOX 312865) genes. Chromosomal analysis showed an X Y translocation involving the short arm of the X chromosome. ![]() (2001) described an 8-year-old male with mesomelic shortening of forearms and legs, brachytelephalangy, and ichthyotic skin lesions. The fact that the patients had neither ichthyosis nor Kallmann syndrome indicates that these loci are located more proximally. The deletion lay at the boundary of the pseudoautosomal region. Maroteaux (1989) reported that DNA molecular analysis of pseudoautosomal and Xp22.3-specific loci showed an interstitial deletion that cosegregated with the phenotypic abnormalities. During the early weeks of life, the son suffered from severe respiratory distress attributed to the small nasal airway and laryngomalacia with stippling of the laryngeal cartilages. It is difficult to suggest that the mother was affected. The mother was somewhat short of stature and was said to have mildly short arms but no punctate calcifications. The son had punctate epiphyseal calcifications, mildly short limbs, flattened nasal bridge, and mental retardation. (1988) described mother and son who were carrying an extra piece on the short arm of the X chromosome, identified as having derived from the long arm of the Y chromosome by means of in situ hybridization with a Y-chromosome-specific DNA probe. (1992) described X-linked recessive chondrodysplasia punctata as part of a contiguous Xp gene deletion syndrome including the CDPX1 gene, a nonspecific X-linked mental retardation gene, the STS gene, and the Kallmann syndrome gene.Īgematsu et al. This was evidence of close situation of the STS locus and the CDPX1 locus. Deletion of the distal short arm of the X chromosome had been inherited from the mother who had a balanced reciprocal translocation between 9p and Xp. (1991) described a male infant with short stature, chondrodysplasia punctata, and ichthyosis due to steroid sulfatase deficiency. (1989) concluded that CPXR is located just proximal to MIC2 in the most distal portion of Xp, which is pseudoautosomal. (1984) and included the Kallmann gene (KAL1 300836).īy a study of cases of various deletions of Xp, Ballabio et al. (1989) was larger than that described by Curry et al. The deletion in the family reported by Bick et al. The skin lesions resembled those of X-linked ichthyosis ( 308100). The women carrying the deletion had normal gonadal function and fertility but were shorter of stature than noncarriers in their families (p less than 0.00001). (1984) reported that the steroid sulfatase (STS 300747), XG ( 300879), and MIC2X ( 313470) loci were also deleted. ![]() High-resolution cytogenetics showed a small deletion at Xp22.32 in all 4 affected males, their carrier mothers, and several potential carrier females. In both of the males studied, cultured fibroblasts showed steroid sulfatase deficiency. All 4 had greatly elevated cholesterol sulfate this measure was normal in carrier females. Because atypical ichthyosis was a feature, the steroid sulfatase system was investigated. Two families were studied, each with 2 affected males. (1982) concluded that X-linked chondrodysplasia punctata may be determined by a locus at Xp22.32.
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