Abstract
Corrigendum7 September 2020Open Access Response to growth hormone in patients with RNPC3 mutations Gabriel Á Martos-Moreno Gabriel Á Martos-Moreno Search for more papers by this author Lourdes Travieso-Suárez Lourdes Travieso-Suárez Search for more papers by this author Jesús Pozo-Román Jesús Pozo-Román Search for more papers by this author María T Muñoz-Calvo María T Muñoz-Calvo Search for more papers by this author Julie A Chowen Julie A Chowen Search for more papers by this author Mikko J Frilander Mikko J Frilander Search for more papers by this author Luis A Pérez-Jurado Luis A Pérez-Jurado Search for more papers by this author Federico G Hawkins Federico G Hawkins Search for more papers by this author Jesús Argente Jesús Argente orcid.org/0000-0001-5826-0276 Search for more papers by this author Gabriel Á Martos-Moreno Gabriel Á Martos-Moreno Search for more papers by this author Lourdes Travieso-Suárez Lourdes Travieso-Suárez Search for more papers by this author Jesús Pozo-Román Jesús Pozo-Román Search for more papers by this author María T Muñoz-Calvo María T Muñoz-Calvo Search for more papers by this author Julie A Chowen Julie A Chowen Search for more papers by this author Mikko J Frilander Mikko J Frilander Search for more papers by this author Luis A Pérez-Jurado Luis A Pérez-Jurado Search for more papers by this author Federico G Hawkins Federico G Hawkins Search for more papers by this author Jesús Argente Jesús Argente orcid.org/0000-0001-5826-0276 Search for more papers by this author Author Information Gabriel Á Martos-Moreno, Lourdes Travieso-Suárez, Jesús Pozo-Román, María T Muñoz-Calvo, Julie A Chowen, Mikko J Frilander, Luis A Pérez-Jurado, Federico G Hawkins and Jesús Argente EMBO Mol Med (2020)12:e13132https://doi.org/10.15252/emmm.202013132 This article corrects the following: Response to growth hormone in patients with RNPC3 mutations06 June 2018 PDFDownload PDF of article text and main figures. ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinked InMendeleyWechatReddit Figures & Info The authors recently noticed that one of the reported mutations, chr1:104093621C>A/p.P474T, was incorrectly listed as c.1320C>A at the cDNA level. The correct mutation is c.1420C>A; the nomenclature at the protein level was correct. This genetic variant is correctly listed in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/587367/), has an allele frequency of 0.00003185 in gnomAD (https://gnomad.broadinstitute.org/variant/1-104093621-C-A?dataset=gnomad_r2_1) and has been reported in a second family with growth hormone deficiency due RNPC3 dysfunction (Verberne et al, 2020). References Verberne EA, Faries S, Mannens MMAM, Postma AV, van Haelst MM (2020) Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. Am J Med Genet A https://doi.org/10.1002/ajmg.a.61632Wiley Online LibraryWeb of Science®Google Scholar Previous ArticleNext Article Read MoreAbout the coverClose modalView large imageVolume 12,Issue 9,07 September 2020This month's cover highlights the article Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity by Claudia Koch, Andra Kuske, Klaus Pantel and colleagues. New estrogen receptor‐positive breast cancer cell line CTC‐ITB‐01 enables functional studies of circulating tumor cells. Cytoplasmatic keratin (orange) and nuclear estrogen receptor (green) protein expression in CTC‐ITB‐01 cells. DAPI nuclear staining (blue). (Scientific image by Claudia Koch et al., Institute of Tumor Biology, University Medical Center Hamburg, Eppendorf, Hamburg, Germany) Volume 12Issue 97 September 2020In this issue ReferencesRelatedDetailsLoading ...
Highlights
The etiology of GHD remains unknown in most cases (Alatzoglou et al, 2009)
We describe the effects of rhGH therapy on growth, body composition, bone mineral density (BMD), and bone microarchitecture in the first three patients identified with this condition
In all three patients with GHD due to mutations in RNPC3, rhGH treatment was highly effective despite the severity of their short
Summary
The etiology of GHD remains unknown in most cases (Alatzoglou et al, 2009). RNPC3 mutations emerged as a novel cause of familial isolated GHD and pituitary hypoplasia (Argente et al, 2014). RNPC3 encodes a 65kDa protein that is a structural component of the U11/U12 small nuclear ribonucleoprotein of the minor spliceosome (Verma et al, 2018). Mutations in RNPC3 lead to structural destabilization of the 65-kDa protein, impaired binding of U12 snRNA, and global defects in splicing of U12-type introns (Argente et al, 2014; Norppa et al, 2018). We describe the effects of rhGH therapy on growth, body composition, bone mineral density (BMD), and bone microarchitecture in the first three patients identified with this condition
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