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PROP<\/jats:styled-content>1<\/jats:italic> was sequenced by the Sanger method in all except one sporadic case studied using a candidate gene panel. Multiplex ligation\u2010dependent probe amplification (MLPA<\/jats:styled-content>) was applied to one familial case in whom PROP<\/jats:styled-content>1<\/jats:italic> failed to amplify by PCR<\/jats:styled-content>. In the 13 patients without PROP<\/jats:styled-content>1<\/jats:italic> mutations, HESX<\/jats:styled-content>1<\/jats:italic> and LHX<\/jats:styled-content>3<\/jats:italic> were sequenced by the Sanger method.<\/jats:p><\/jats:sec>Results<\/jats:title>We identified PROP<\/jats:styled-content>1<\/jats:italic> mutations in 10 index cases. Three mutations were novel: one affecting the initiation codon (c.1A>G) and two affecting splicing sites, c.109+1G>A and c.342+1G>C. The known mutations, c.150delA (p.Arg53Aspfs*112), c.218G>A (p.Arg73His), c.263T>C (p.Phe88Ser) and c.301_302delAG<\/jats:styled-content> (p.Leu102Cysfs*8), were also detected. MLPA<\/jats:styled-content> confirmed complete PROP<\/jats:styled-content>1<\/jats:italic> deletion in one family. We did not identify HESX<\/jats:styled-content>1<\/jats:italic> and LHX<\/jats:styled-content>3<\/jats:italic> mutations by Sanger.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>PROP<\/jats:styled-content>1<\/jats:italic> mutations are a prevalent cause of congenital CPHD<\/jats:styled-content> with OPP<\/jats:styled-content>, and therefore, PROP<\/jats:styled-content>1<\/jats:italic> sequencing must be the first step of molecular investigation in patients with CPHD<\/jats:styled-content> and OPP<\/jats:styled-content>, especially in populations with a high frequency of PROP<\/jats:styled-content>1<\/jats:italic> mutations. In the absence of mutations, massively parallel sequencing is a promising approach. The high prevalence and diversity of PROP<\/jats:styled-content>1<\/jats:italic> mutations is associated with the ethnic background of this cohort.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.13430","type":"journal-article","created":{"date-parts":[[2017,7,22]],"date-time":"2017-07-22T08:52:34Z","timestamp":1500713554000},"page":"725-732","source":"Crossref","is-referenced-by-count":13,"title":["Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP<\/scp>1<\/i> alterations with three novel mutations"],"prefix":"10.1111","volume":"87","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3513-4020","authenticated-orcid":false,"given":"Joao LO","family":"Madeira","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42 Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP) S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian Y","family":"Nishi","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42 Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP) S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilena","family":"Nakaguma","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42 Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP) S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna F","family":"Benedetti","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento Laborat\u00f3rio de 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