{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T10:18:12Z","timestamp":1780913892193,"version":"3.54.1"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2004,12,21]],"date-time":"2004-12-21T00:00:00Z","timestamp":1103587200000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Acid sphingomyelinase (ASM) deficient Niemann\u2010Pick disease (NPD) is an autosomal recessive disorder caused by mutations in the ASM gene (<jats:italic>SMPD1<\/jats:italic>). More than 70 different mutations have been reported in this gene. NPD type B is the most common type in Saudi Arabia with a frequency of 1:40 000 to 1:100 000. The phenotype of Saudi Type B patients is more severe than patients reported from the West. Two mutations specific to Saudi patients have been inherited in the <jats:italic>SMPD1<\/jats:italic> gene. Given the difficult management of the disease, we opted for a preventive approach to the suffering families by screening the whole <jats:italic>SMPD1<\/jats:italic> gene for mutations followed by Preimplantation Genetic Diagnosis (PGD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The family suffering from NPD\u2010B underwent mutation screening for the entire <jats:italic>SMPD1<\/jats:italic> gene followed by PGD using nested PCR and sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel mutation in a family suffering from the same severe NPD\u2010B phenotype is described in this report (W533R). After PGD, a singleton pregnancy ensued after transfer of one heterozygous and one normal embryo. Postnatal DNA testing of the newborn showed a normal homozygous genotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This report reveals a new <jats:italic>SMPD1<\/jats:italic> mutation responsible for similar Saudi severe phenotype, and the prevention of this disorder by PGD. Copyright \u00a9 2004 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1050","type":"journal-article","created":{"date-parts":[[2004,12,21]],"date-time":"2004-12-21T15:09:12Z","timestamp":1103641752000},"page":"943-948","source":"Crossref","is-referenced-by-count":9,"title":["Preimplantation genetic diagnosis for Niemann\u2010Pick disease type B"],"prefix":"10.1002","volume":"24","author":[{"given":"Ali","family":"Hellani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward H.","family":"Schuchman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Al\u2010Odaib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Al Aqueel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamal","family":"Jaroudi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinar","family":"Ozand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Coskun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,12,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.55.2.366"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg953"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/15.9.1947"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90246-B"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gag046"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.humrep.a137173"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.394"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4838(99)00069-2"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800209"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(02)04540-5"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90366-Z"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)93007-3"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/8.1.11"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/345074"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200012)20:13<1030::AID-PD977>3.0.CO;2-D"},{"key":"e_1_2_1_17_1","volume-title":"Atlas of Preimplantation Genetic Diagnosis","author":"Verlinsky Y","year":"2000"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10278"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1050","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1050","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:46:48Z","timestamp":1700156808000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,15]]},"references-count":17,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2004,12,15]]}},"alternative-id":["10.1002\/pd.1050"],"URL":"https:\/\/doi.org\/10.1002\/pd.1050","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,15]]}}}