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@ARTICLE{Simm:136899,
      author       = {F. Simm and A. Griesbeck and D. Choukair and B. Weiß and
                      N. Paramasivam$^*$ and J. Klammt and M. Schlesner$^*$ and S.
                      Wiemann$^*$ and C. Martinez and G. F. Hoffmann and R. W.
                      Pfäffle and M. Bettendorf and G. A. Rappold},
      title        = {{I}dentification of {SLC}20{A}1 and {SLC}15{A}4 among other
                      genes as potential risk factors for combined pituitary
                      hormone deficiency.},
      journal      = {Genetics in medicine},
      volume       = {20},
      number       = {7},
      issn         = {1530-0366},
      address      = {Baltimore, Md.},
      publisher    = {Lippincott, Williams $\&$ Wilkins},
      reportid     = {DKFZ-2018-01337},
      pages        = {728 - 736},
      year         = {2018},
      abstract     = {Combined pituitary hormone deficiency (CPHD) is
                      characterized by a malformed or underdeveloped pituitary
                      gland resulting in an impaired pituitary hormone secretion.
                      Several transcription factors have been described in its
                      etiology, but defects in known genes account for only a
                      small proportion of cases.To identify novel genetic causes
                      for congenital hypopituitarism, we performed
                      exome-sequencing studies on 10 patients with CPHD and their
                      unaffected parents. Two candidate genes were sequenced in
                      further 200 patients. Genotype data of known hypopituitary
                      genes are reviewed.We discovered 51 likely damaging variants
                      in 38 genes; 12 of the 51 variants represent de novo events
                      $(24\%);$ 11 of the 38 genes $(29\%)$ were present in the
                      E12.5/E14.5 pituitary transcriptome. Targeted sequencing of
                      two candidate genes, SLC20A1 and SLC15A4, of the solute
                      carrier membrane transport protein family in 200 additional
                      patients demonstrated two further variants predicted as
                      damaging. We also found combinations of de novo
                      (SLC20A1/SLC15A4) and transmitted variants (GLI2/LHX3) in
                      the same individuals, leading to the full-blown CPHD
                      phenotype.These data expand the pituitary target genes
                      repertoire for diagnostics and further functional studies.
                      Exome sequencing has identified a combination of rare
                      variants in different genes that might explain incomplete
                      penetrance in CPHD.},
      cin          = {B080 / B240 / W110 / B050},
      ddc          = {570},
      cid          = {I:(DE-He78)B080-20160331 / I:(DE-He78)B240-20160331 /
                      I:(DE-He78)W110-20160331 / I:(DE-He78)B050-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29261175},
      doi          = {10.1038/gim.2017.165},
      url          = {https://inrepo02.dkfz.de/record/136899},
}