{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:15:50Z","timestamp":1758816950977},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T00:00:00Z","timestamp":1442188800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institutes of Health Philippines"},{"name":"Institute of Human Genetics"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title><jats:bold>Abstract<\/jats:bold><\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Classic homocystinuria due to cystathionine \u03b2\u2010synthase (CBS) deficiency is an autosomal recessive disorder of sulfur metabolism. Clinical manifestations include mental retardation, dislocation of the optic lens (ectopia lentis), skeletal abnormalities and a tendency to thromboembolic episodes. We present the first mutational analysis of <jats:italic>CBS<\/jats:italic> in a Filipino patient with classic homocystinuria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic DNA was extracted from peripheral blood collected from a diagnosed Filipino patient with classic homocystinuria. The entire coding region of <jats:italic>CBS<\/jats:italic> (17 exons) was amplified using polymerase chain reaction and bidirectionally sequenced using standard protocols.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient was found to be compound heterozygous for two novel mutations, g.13995G&gt;A [c.982G&gt;A; p.D328K] and g.15860\u201015868dupGCAGGAGCT [c.1083\u20101091dupGCAGGAGCT; p. Q362\u2010L364dupQEL]. Four known single\u2010nucleotide polymorphisms (rs234706, rs1801181, rs706208 and rs706209) were also detected in the present patient's <jats:italic>CBS<\/jats:italic>. The patient was heterozygous for all the identified alleles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first mutational analysis of <jats:italic>CBS<\/jats:italic> done in a Filipino patient with classic homocystinuria who presented with a novel duplication mutation and a novel missense mutation. Homocystinuria due to CBS deficiency is a heterogeneous disorder at the molecular level.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.12666","type":"journal-article","created":{"date-parts":[[2015,5,4]],"date-time":"2015-05-04T11:48:51Z","timestamp":1430740131000},"page":"884-887","source":"Crossref","is-referenced-by-count":12,"title":["Novel cystathionine \u03b2\u2010synthase gene mutations in a Filipino patient with classic homocystinuria"],"prefix":"10.1111","volume":"57","author":[{"given":"Catherine Lynn T.","family":"Silao","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, National Institutes of Health Philippines"},{"name":"Department of Pediatrics University of the Philippines College of Medicine\u2010Philippine General Hospital  Manila Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terence Diane F.","family":"Fabella","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, National Institutes of Health Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kahlil Izza D.","family":"Rama","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, National Institutes of Health Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia C.","family":"Estrada","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, National Institutes of Health Philippines"},{"name":"Department of Pediatrics University of the Philippines College of Medicine\u2010Philippine General Hospital  Manila Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9416"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9153"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.01.021"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3181a32bb8"},{"key":"e_1_2_7_6_1","volume-title":"GeneReviews\u2122 [Internet]","author":"Picker JD","year":"1993"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21273"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2005.05.030"},{"key":"e_1_2_7_9_1","unstructured":"EstradaSC SilaoCLT.Errors of metabolism. In:NavarroXR BauzonAF AguilarJS MalanyaonOQ(eds).Fundamentals of Pediatrics Competency Based.C & E Publishing Inc. Quezon City Philippines 2014;324\u201372."},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R400005200"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.4238\/2011.October.7.4"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010577512912"},{"key":"e_1_2_7_13_1","first-page":"81","article-title":"Classical homocystinuria in two Filipino patients","volume":"45","author":"Abacan MAR","year":"2011","journal-title":"Acta Med. Philipp."},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.22855"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32162"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.23318"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.1998.0723"},{"key":"e_1_2_7_19_1","first-page":"48386","article-title":"Deletion mutagenesis of human cystathionine beta\u2010synthase. Impact on activity, oligomeric status, and S\u2010adenosylmethionine regulation","volume":"277","author":"Oliveriusova J","year":"2002","journal-title":"J. Biol."},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10104"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12666","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12666","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12666","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T12:08:49Z","timestamp":1696162129000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12666"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,14]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1111\/ped.12666"],"URL":"https:\/\/doi.org\/10.1111\/ped.12666","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,14]]}}}