{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T02:25:55Z","timestamp":1778984755369,"version":"3.51.4"},"reference-count":15,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,12]]},"abstract":"<jats:p>Sixteen males and two females with symmetrical (mild) type of chondrodysplasia punctata were tested for mutations in the X chromosome located arylsulphatase D and E genes. We identified one nonsense and two missense mutations in the arylsulphatase E gene in three males. No mutations were detected in the arylsulphatase D gene. Family studies showed segregation of the mutant genes establishing X linked inheritance for these families. Asymptomatic females and males were found in these studies. The clinical presentation varies not only between unrelated affected males, but also between affected males within the same family. We also conclude that clinical diagnosis of chondrodysplasia punctata in adults can be difficult. Finally, our results indicate that brachytelephalangy is not necessarily a feature of X linked symmetrical chondrodysplasia punctata.<\/jats:p>","DOI":"10.1136\/jmg.35.12.1004","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"1004-1008","source":"Crossref","is-referenced-by-count":20,"title":["Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata."],"prefix":"10.1136","volume":"35","author":[{"given":"L J","family":"Sheffield","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A H","family":"Osborn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W M","family":"Hutchison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D O","family":"Sillence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S M","family":"Forrest","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S J","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H H","family":"Dahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,12,1]]},"reference":[{"key":"ref_1","first-page":"190","article-title":"Heterogeneity of chondrodysplasia punctata","volume":"11","author":"Spranger, J.W.; Opitz, J.M.; Bidder, U.","year":"1971","unstructured":"Spranger JW, Opitz JM, Bidder U. Heterogeneity of chondrodysplasia punctata. Humangenetik 1971;11: 190-212.","journal-title":"Humangenetik"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1002\/ajmg.1320430514","article-title":"Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders","volume":"43","author":"Wulfsberg, E.A.; Curtis, J.; Jayne, C.H.","year":"1992","unstructured":"Wulfsberg EA, Curtis J, Jayne CH. Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. AmJMed Genet 1992; 43:823-8.","journal-title":"AmJMed Genet"},{"key":"ref_3","first-page":"64","article-title":"Clinical, radiological and biochemical classification of chondrodysplasia punctata","volume":"45","author":"Sheffield, L.J.; Halliday, J.L.; Danks, D.M.","year":"1989","unstructured":"Sheffield LJ, Halliday JL, Danks DM, et al. Clinical, radiological and biochemical classification of chondrodysplasia punctata. Am J Hum Genet 1989;45:A64.","journal-title":"Am J Hum Genet"},{"key":"ref_4","first-page":"112","article-title":"To lump or split types","volume-title":"of chondrodysplasia punctata? Proc Greenwood Genetic Centre 1991-10","author":"Sheffield, U.; Halliday, J.L.; Jensen, F.; Danks, D.M.","unstructured":"Sheffield U, Halliday JL, Jensen F, Danks DM. To lump or split types of chondrodysplasia punctata? Proc Greenwood Genetic Centre 1991-10: 112-13."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1016\/S0022-3476(76)80596-3","article-title":"Chondrodysplasia punctata - 23 cases of a mild and relatively common variety","volume":"89","author":"Sheffield, U.; Danks, D.M.; Mayne, V.; Hutchinson, A.L.","year":"1976","unstructured":"Sheffield U, Danks DM, Mayne V, Hutchinson AL. Chondrodysplasia punctata - 23 cases of a mild and relatively common variety. Jf Pediatr 1976;89:916-23.","journal-title":"Jf Pediatr"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/BF00284052","article-title":"Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form","volume":"82","author":"Maroteaux, P.","year":"1989","unstructured":"Maroteaux P. Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. Hum Genet 1989;82: 167-70.","journal-title":"Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"4519","DOI":"10.1073\/pnas.84.13.4519","article-title":"Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis","volume":"84","author":"Ballabio, A.; Parenti, G.; Carrozzo, R.","year":"1987","unstructured":"Ballabio A, Parenti G, Carrozzo R, et al. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Nad Acad Sci USA 1987;84:4519-23.","journal-title":"Proc Nad Acad Sci USA"},{"key":"ref_8","first-page":"247","article-title":"An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature","volume":"85","author":"Petit, C.; Melki, J.; Levilliers, J.","year":"1990","unstructured":"Petit C, Melki J, Levilliers J, et al. An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature. Hum Genet 1990;85:247-50.","journal-title":"Hum Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/0092-8674(95)90367-4","article-title":"A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy","volume":"81","author":"Franco, B.; Meroni, G.; Parenti, G.","year":"1995","unstructured":"Franco B, Meroni G, Parenti G, et al. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 1995;81:15-25.","journal-title":"Cell"},{"key":"ref_10","first-page":"75","article-title":"A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion","volume":"95","author":"Blok, R.B.; Thorburn, D.R.; Thompson, G.N.; Dahl, H.H.","year":"1995","unstructured":"Blok RB, Thorburn DR, Thompson GN, Dahl HH. A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion. Hum Genet 1995;95:75-81.","journal-title":"Hum Genet"},{"key":"ref_11","first-page":"8749","article-title":"Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction","volume":"5","author":"Orita, M.; Suzuki, Y.; Sekiya, T.; Hayashi, K.","year":"1989","unstructured":"Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:8749.","journal-title":"Genomics"},{"key":"ref_12","first-page":"980","article-title":"Use of filtered pipet tips to elute DNA from agarose gels","volume":"18","author":"Dean, A.D.; Greenwald, J.E.","year":"1995","unstructured":"Dean AD, Greenwald JE. Use of filtered pipet tips to elute DNA from agarose gels. BioTechniques 1995;18:980.","journal-title":"BioTechniques"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/(SICI)1096-8628(19971212)73:2<139::AID-AJMG7>3.0.CO;2-P","article-title":"X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene","volume":"73","author":"Parenti, G.; Buttitta, P.; Meroni, G.","year":"1997","unstructured":"Parenti G, Buttitta P, Meroni G, et al. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Am Jf Med Genet 1997;73:139-43.","journal-title":"Am Jf Med Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"21386","DOI":"10.1016\/S0021-9258(18)54649-4","article-title":"et aL Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B","volume":"266","author":"Wicker, G.; Prill, V.; Brooks, D.","year":"1991","unstructured":"Wicker G, Prill V, Brooks D, et aL Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. J Biol Chem 1991;266: 21386-91.","journal-title":"J Biol Chem"},{"key":"ref_15","article-title":"Personal communication. OMIM (TM) Online Mendelian inheritance in man. MIM Number 302960","author":"Ropers, H.H.","unstructured":"Ropers HH. Personal communication. OMIM (TM) Online Mendelian inheritance in man. MIM Number 302960. Baltimore: Johns Hopkins University, WW URL: http:\/\/www.ncbi.nlm.nih.gov\/Omim\/1987."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.12.1004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:45:43Z","timestamp":1760730343000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.12.1004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,12]]},"references-count":15,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1998,12,1]]},"published-print":{"date-parts":[[1998,12]]}},"alternative-id":["10.1136\/jmg.35.12.1004"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.12.1004","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,12]]}}}