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It is known that null mutations in<jats:italic>TRIP11<\/jats:italic>disrupt Golgi function and cause a lethal skeletal dysplasia known as achondrogenesis type 1A (ACG1A), however recently, hypomorphic mutations in that gene have been linked to odontochondrodysplasia (ODCD), a nonlethal skeletal dysplasia characterized by skeletal changes in the spine and in the metaphyseal regions, associated with dentinogenesis imperfecta. Here we present two patients reflecting the phenotypic spectrum related to different<jats:italic>TRIP11<\/jats:italic>variants. The first is a female child with ODCD, for whom a homozygous in\u2010frame splicing mutation in intron 9 of<jats:italic>TRIP11<\/jats:italic>was identified. The mutation appears to lead to the expression of an alternative TRIP11 transcript, that may explain the less severe radiological alterations in ODCD. The second is a fetus with classical form of ACG1A, associated with typical molecular findings (frameshift) in exon 11 of<jats:italic>TRIP11,<\/jats:italic>both novel mutations. The two patients reported here represent the<jats:italic>TRIP11<\/jats:italic>spectrum of skeletal dysplasia ranging from mild to lethal phenotypes, thereby enabling one to suggest a genotype\u2013phenotype correlation in these diseases.<\/jats:p>","DOI":"10.1002\/ajmg.a.61460","type":"journal-article","created":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T07:45:32Z","timestamp":1578296732000},"page":"681-688","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Pathogenic variants in the<i>TRIP11<\/i>gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A"],"prefix":"10.1002","volume":"182","author":[{"given":"Cristina T. N.","family":"Medina","sequence":"first","affiliation":[{"name":"Post\u2010Graduate Program in Genomic Sciences and Biotechnology Universidade Cat\u00f3lica de Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Secretariat of Health Governo do Distrito Federal Brasilia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Sandoval","sequence":"additional","affiliation":[{"name":"S\u00edrio\u2010Liban\u00eas Hospital, Asa Sul Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Post\u2010Graduate Program in Genomic Sciences and Biotechnology Universidade Cat\u00f3lica de Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"da Costa Silveira","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Departamento de Gen\u00e9tica M\u00e9dica Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (UNICAMP) Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6617-4730","authenticated-orcid":false,"given":"Denise P.","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Departamento de Gen\u00e9tica M\u00e9dica Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (UNICAMP) Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8789-3512","authenticated-orcid":false,"given":"Robert","family":"Pogue","sequence":"additional","affiliation":[{"name":"Post\u2010Graduate Program in Genomic Sciences and Biotechnology Universidade Cat\u00f3lica de Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-018-0444-7"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.2350\/06-07-0134.1"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-31"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440607"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80113-6"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000315"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMe0911455"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390211"},{"issue":"10","key":"e_1_2_10_10_1","doi-asserted-by":"crossref","first-page":"2554","DOI":"10.1002\/ajmg.a.36106","article-title":"The phenotype range of 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