{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:54:56Z","timestamp":1753890896711,"version":"3.41.2"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T00:00:00Z","timestamp":1678060800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Objective:<\/jats:bold> Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a variety of genomic variations. Our aim is to identify the molecular basis of OCA in two families and lay the foundation for prenatal diagnosis.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> Four types of OCA-causing mutations in the TYR, <jats:italic>p<\/jats:italic>, TYRP1, or SLC45A2 genes were screened. Linkage analysis was performed because the mutations found in the <jats:italic>p<\/jats:italic> gene violated the laws of classical Mendelian heredity. Primer-walking sequencing combined with microsatellite and single-nucleotide polymorphism analysis was used to ascertain deletion ranges. Bioinformatics methods were used to assess the pathogenicity of the new mutations.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> Proband 1 was diagnosed as OCA2 with Prader\u2013Willi syndrome (PWS) due to a novel atypical paternal deletion (chromosome 15: 22330347\u201326089649) and a pathogenic mutation, c.1327G&amp;gt;A (Val443Ile), in the <jats:italic>p<\/jats:italic> gene of the maternal chromosome. The prenatal diagnosis results for family 1 indicated the fetus was a heterozygous carrier (c.1327G&amp;gt;A in the <jats:italic>p<\/jats:italic> gene) with a normal phenotype. Proband 2 was diagnosed as OCA2 with Angelman syndrome (AS) due to a typical maternal deletion of chromosome 15q11-q13 and a novel mutation, c.1514T&amp;gt;C (Phe505Ser), in the <jats:italic>p<\/jats:italic> gene of the paternal chromosome. This novel mutation c.1514T&amp;gt;C (Phe505Ser) in the <jats:italic>p<\/jats:italic> gene was predicted as a pathogenic mutation.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> Our study has shown clear genotype\u2013phenotype correlations in patients affected by distinct deletions of the PWS or AS region and missense mutations in the <jats:italic>p<\/jats:italic> gene. Our results have enriched the mutation spectrum of albinism diseases and provided insights for more accurate diagnosis and genetic counseling.<\/jats:p>","DOI":"10.3389\/fgene.2023.1135698","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T05:07:53Z","timestamp":1678079273000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of novel variations of oculocutaneous albinism type 2 with Prader\u2013Willi syndrome\/Angelman syndrome in two Chinese families"],"prefix":"10.3389","volume":"14","author":[{"given":"XiaoFei","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ZiShui","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DongZhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Lei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"WeiYing","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HongYi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1186\/1471-2202-15-76","article-title":"The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders","volume":"15","author":"Bailus","year":"2014","journal-title":"Bailus Segal BMC Neurosci."},{"key":"B2","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1038\/gim.0b013e31822bead0","article-title":"Prader-Willi syndrome","volume":"14","author":"Cassidy","year":"2012","journal-title":"Genet. 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