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SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management

(2017) CLINICAL GENETICS. 92(1). p.99-103
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Organization
Abstract
Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia.
Keywords
46, XY-DSD, c, 1227C > A, SF1, spleen development, STEROIDOGENIC FACTOR-I, XY SEX REVERSAL, NR5A1 GENE, OVARIAN INSUFFICIENCY, ADRENAL INSUFFICIENCY, FACTOR-1 SF1, SF-1, DIFFERENTIATION, HUMANS, MICE

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Citation

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Chicago
Colson, Cindy, Estelle Aubry, Maryse Cartigny, Amélie-Anne Rémy, Hélène Franquet, Xavier Leroy, Géraldine Kéchid, et al. 2017. “SF1 and Spleen Development : New Heterozygous Mutation, Literature Review and Consequences for NR5A1-mutated-patient’s Management.” Clinical Genetics 92 (1): 99–103.
APA
Colson, C., Aubry, E., Cartigny, M., Rémy, A.-A., Franquet, H., Leroy, X., Kéchid, G., et al. (2017). SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient’s management. CLINICAL GENETICS, 92(1), 99–103.
Vancouver
1.
Colson C, Aubry E, Cartigny M, Rémy A-A, Franquet H, Leroy X, et al. SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient’s management. CLINICAL GENETICS. 2017;92(1):99–103.
MLA
Colson, Cindy, Estelle Aubry, Maryse Cartigny, et al. “SF1 and Spleen Development : New Heterozygous Mutation, Literature Review and Consequences for NR5A1-mutated-patient’s Management.” CLINICAL GENETICS 92.1 (2017): 99–103. Print.
@article{8501371,
  abstract     = {Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia.},
  author       = {Colson, Cindy and Aubry, Estelle and Cartigny, Maryse and R{\'e}my, Am{\'e}lie-Anne and Franquet, H{\'e}l{\`e}ne and Leroy, Xavier and K{\'e}chid, G{\'e}raldine and Lef{\`e}vre, Christine and Besson, R{\'e}mi and Cools, Martine and Spinoit, Anne-Fran\c{c}oise and Sultan, Charles and Manouvrier, Sylvie and Philibert, Pascal and Ghoumid, Jamal},
  issn         = {0009-9163},
  journal      = {CLINICAL GENETICS},
  language     = {eng},
  number       = {1},
  pages        = {99--103},
  title        = {SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management},
  url          = {http://dx.doi.org/10.1111/cge.12957},
  volume       = {92},
  year         = {2017},
}

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