{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T16:50:37Z","timestamp":1793465437029,"version":"4.5.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,17]],"date-time":"2018-12-17T00:00:00Z","timestamp":1545004800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension. Syndactyly, brachydactyly, bone fragility, heart defects, and learning disabilities have also been reported. Loss\u2010of\u2010function variants in <jats:italic>YY1AP1<\/jats:italic> have only recently been associated with Grange syndrome. <jats:italic>YY1AP1<\/jats:italic> encodes for the transcription coactivator yin yang 1\u2010associated protein 1 which regulates smooth muscle cell proliferation and differentiation. We here report on three siblings with steno\u2010occlusive arterial disorder and syndactyly in two of them. Whole exome sequencing including near\u2010splice regions led to the identification of two intronic <jats:italic>YY1AP1<\/jats:italic> variants which were predicted to interfere with normal splicing. Sanger sequencing demonstrated compound\u2010heterozygosity in all affected siblings. RT\u2010PCR analyses confirmed skipping of exon 6 on one allele and exonization of 22\u2009bp in intron 6 on the other. This is the first report of biallelic <jats:italic>YY1AP1<\/jats:italic> variants in noncoding regions and just the second family with multiple affected siblings. Therefore, our report further delineates the phenotypic spectrum of Grange syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.60700","type":"journal-article","created":{"date-parts":[[2018,12,17]],"date-time":"2018-12-17T08:14:48Z","timestamp":1545034488000},"page":"295-299","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Identification of pathogenic <i>YY1AP1<\/i> splice variants in siblings with Grange syndrome by whole exome sequencing"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7834-4650","authenticated-orcid":false,"given":"Matthias","family":"Rath","sequence":"first","affiliation":[{"name":"Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald  Greifswald Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Spiegler","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald  Greifswald Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technische Universit\u00e4t M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen  Neuherberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Trenkler","sequence":"additional","affiliation":[{"name":"Institute of Neuroradiology Kepler University Hospital  Linz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter Michael","family":"Kroisel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical University of Graz  Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Felbor","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald  Greifswald Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,17]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"Baradhi K. 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