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Zeidler, Claudia; Woelfle, Joachim; Draaken, Markus; Mughal, Sadaf S.; Große, Greta; Hilger, Alina C.; Dworschak, Gabriel C.; Boemers, Thomas M.; Jenetzky, Ekkehart; Zwink, Nadine; Lacher, Martin; Schmidt, Dominik; Schmiedeke, Eberhard; Grasshoff‐Derr, Sabine; Märzheuser, Stefanie; Holland‐Cunz, Stefan; Schäfer, Mattias; Bartels, Enrika; Keppler, Kathleen; Palta, Markus; Leonhardt, Johannes; Kujath, Christina; Rißmann, Anke; Nöthen, Markus M.; [...]

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

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  • Medientyp: E-Artikel
  • Titel: Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
  • Beteiligte: Zeidler, Claudia; Woelfle, Joachim; Draaken, Markus; Mughal, Sadaf S.; Große, Greta; Hilger, Alina C.; Dworschak, Gabriel C.; Boemers, Thomas M.; Jenetzky, Ekkehart; Zwink, Nadine; Lacher, Martin; Schmidt, Dominik; Schmiedeke, Eberhard; Grasshoff‐Derr, Sabine; Märzheuser, Stefanie; Holland‐Cunz, Stefan; Schäfer, Mattias; Bartels, Enrika; Keppler, Kathleen; Palta, Markus; Leonhardt, Johannes; Kujath, Christina; Rißmann, Anke; Nöthen, Markus M.; [...]
  • Erschienen: Wiley, 2014
  • Erschienen in: Birth Defects Research Part A: Clinical and Molecular Teratology
  • Sprache: Englisch
  • DOI: 10.1002/bdra.23278
  • ISSN: 1542-0752; 1542-0760
  • Schlagwörter: Developmental Biology ; Embryology ; General Medicine ; Pediatrics, Perinatology and Child Health
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:sec><jats:title>Background</jats:title><jats:p>The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although <jats:italic>fibroblast growth factor‐8</jats:italic> (<jats:italic>FGF8</jats:italic>) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic <jats:italic>Fgf8</jats:italic> allele or complete gene invalidation display, aside from gonadotropin‐releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We performed <jats:italic>FGF8</jats:italic> gene analysis in 49 patients with VATER/VACTERL association and 27 patients presenting with a VATER/VACTERL‐like phenotype (two cardinal features).</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We identified two heterozygous <jats:italic>FGF8</jats:italic> mutations in patients displaying either VATER/VACTERL association (p.Gly29_Arg34dup) or a VATER/VACTERL‐like phenotype (p.Pro26Leu) without limb anomalies. Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient. Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with <jats:italic>FGF8</jats:italic> associated Kallmann syndrome. Each mutation was paternally inherited. Besides delayed puberty in both and additional unilateral cryptorchidism in one of the fathers, they were otherwise healthy. Serum hormone levels downstream the gonadotropin‐releasing hormone in both patients and their fathers were within normal range.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our results suggest <jats:italic>FGF8</jats:italic> mutations to contribute to the formation of the VATER/VACTERL association. Further studies are needed to support this observation. Birth Defects Research (Part A) 100:750–759, 2014. © 2014 Wiley Periodicals, Inc.</jats:p></jats:sec>