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The majority of cases are sporadic and of unknown cause. We screened 28 patients with pituitary stalk interruption syndrome for mutations in the FAT\/DCHS family of protocadherins that have high functional redundancy. We identified 7 variants, 4 of which are putatively damaging, in\n                    <jats:italic>FAT2<\/jats:italic>\n                    and\n                    <jats:italic>DCHS2<\/jats:italic>\n                    in 6 patients with pituitary developmental defects recruited through a cohort of patients with mostly ectopic posterior pituitary gland and\/or pituitary stalk interruption. All patients had growth hormone deficiency, and 2 presented with multiple hormone deficiencies and small glands. FAT2 and DCHS2 were strongly expressed in the mesenchyme surrounding the normal developing human pituitary. We analyzed\n                    <jats:italic>\n                      Dchs2\n                      <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    <\/jats:italic>\n                    mouse mutants and identified anterior pituitary hypoplasia and partially penetrant infundibular defects. Overlapping infundibular abnormalities and distinct anterior pituitary morphogenesis defects were observed in\n                    <jats:italic>\n                      Fat4\n                      <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    <\/jats:italic>\n                    and\n                    <jats:italic>\n                      Dchs1\n                      <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    <\/jats:italic>\n                    mouse mutants, but all animal models displayed normal commitment to anterior pituitary cell types. Together our data implicate FAT\/DCHS protocadherins in normal hypothalamic-pituitary development and identify\n                    <jats:italic>FAT2<\/jats:italic>\n                    and\n                    <jats:italic>DCHS2<\/jats:italic>\n                    as candidates underlying pituitary gland developmental defects such as ectopic pituitary gland and\/or pituitary stalk interruption.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.134310","type":"journal-article","created":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T12:44:51Z","timestamp":1603802691000},"source":"Crossref","is-referenced-by-count":21,"title":["Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development"],"prefix":"10.1172","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0932-8515","authenticated-orcid":true,"given":"Emily J.","family":"Lodge","sequence":"first","affiliation":[{"name":"Centre for Craniofacial & Regenerative Biology, King\u2019s 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