{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:26:39Z","timestamp":1761863199974},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T00:00:00Z","timestamp":1375660800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>ernard\u2013<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>oulier syndrome (<jats:styled-content style=\"fixed-case\">BSS<\/jats:styled-content>) is a rare autosomal recessive bleeding disorder characterized by giant platelets, thrombocytopenia, and a prolonged bleeding time, which is caused by homozygous mutations in the <jats:styled-content style=\"fixed-case\">GPIb<\/jats:styled-content>\u03b1, <jats:styled-content style=\"fixed-case\">GPIb<\/jats:styled-content>\u03b2, or <jats:styled-content style=\"fixed-case\">GPIX<\/jats:styled-content> genes. The 22q11.2 deletion syndrome (22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>) is caused by a microdeletion on chromosome 22, which includes the <jats:styled-content style=\"fixed-case\">GPIb<\/jats:styled-content>\u03b2 gene, and is characterized by abnormal development of the pharyngeal apparatus and heart. Thus, patients with 22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content> are obligate carriers for <jats:styled-content style=\"fixed-case\">BSS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated two infants with <jats:styled-content style=\"fixed-case\">BSS<\/jats:styled-content> and performed the genetic analysis of the <jats:styled-content style=\"fixed-case\">GPIb<\/jats:styled-content>\u03b1, <jats:styled-content style=\"fixed-case\">GPIb<\/jats:styled-content>\u03b2, or <jats:styled-content style=\"fixed-case\">GPIX<\/jats:styled-content> genes, and investigated the segregation of the mutation within the families. The status of the 22q11.2 deletion was examined by fluorescence <jats:italic>in situ<\/jats:italic> hybridization and single\u2010nucleotide polymorphism array copy number analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing analysis revealed that the infants were compound heterozygous for a hemizygous mutation in the <jats:styled-content style=\"fixed-case\">GPIb<\/jats:styled-content>\u03b2 gene (p.<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>rp148<jats:styled-content style=\"fixed-case\">X<\/jats:styled-content> and p.<jats:styled-content style=\"fixed-case\">L<\/jats:styled-content>eu97<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>he, respectively) and 22q11.2 deletion in the other chromosome. Both infants had the common 3<jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>b 22q11.2 deletion but did not show major phenotypic features of 22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content>, such as developmental delay, cardiac defects, dysmorphic facial features, palatal anomalies, hypocalcemia, and immune deficiency. The 22q11.2<jats:styled-content style=\"fixed-case\">DS<\/jats:styled-content> would not have become clear if detailed molecular genetic analyses of <jats:styled-content style=\"fixed-case\">BSS<\/jats:styled-content> had not been performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our cases illustrate that a suspicion of 22q11.2 deletion is warranted in pediatric <jats:styled-content style=\"fixed-case\">BSS<\/jats:styled-content> patients with a mutation in the <jats:styled-content style=\"fixed-case\">GPIb<\/jats:styled-content>\u03b2 gene, even without remarkable symptoms.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.12105","type":"journal-article","created":{"date-parts":[[2013,4,9]],"date-time":"2013-04-09T04:14:20Z","timestamp":1365480860000},"page":"434-437","source":"Crossref","is-referenced-by-count":31,"title":["<scp>B<\/scp>ernard\u2013<scp>S<\/scp>oulier syndrome caused by a hemizygous <scp>GPIb<\/scp>\u03b2 mutation and 22q11.2 deletion"],"prefix":"10.1111","volume":"55","author":[{"given":"Shinji","family":"Kunishima","sequence":"first","affiliation":[{"name":"Department of Advanced Diagnosis, Clinical Research Center National Hospital Organization Nagoya Medical Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Imai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Otsu Red Cross Hospital  Otsu"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoji","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sapporo Hokuyu Hospital  Sapporo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motohiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Cancer Genomics Project University of Tokyo Hospital  Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seishi","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Cancer Genomics Project University of Tokyo Hospital  Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidehiko","family":"Saito","sequence":"additional","affiliation":[{"name":"National Hospital Organization Nagoya Medical Center  Nagoya"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,8,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.039883"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02982690"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(02)00280-7"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182060469"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1182\/blood.V89.7.2404","article-title":"Missense mutations of the glycoprotein (GP) Ib\u03b2 gene impairing the GPIb \u03b1\/\u03b2 disulfide linkage in a family with giant platelet disorder","volume":"89","author":"Kunishima S","year":"1997","journal-title":"Blood"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10230"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001721-199707000-00009"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.763"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1613350"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.36.22076"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH04-02-0071"},{"key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"2968","DOI":"10.1182\/blood.V93.9.2968.409a15_2968_2975","article-title":"The critical interaction of glycoprotein (GP) Ib\u03b2 with GPIX: a genetic cause of Bernard\u2010Soulier syndrome","volume":"93","author":"Kenny D","year":"1999","journal-title":"Blood"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000207515"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T02:07:15Z","timestamp":1696039635000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1111\/ped.12105"],"URL":"https:\/\/doi.org\/10.1111\/ped.12105","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8]]}}}