Colson C, Aubry E, Cartigny M, Rémy A-A, Franquet H, Leroy X, Kéchid G, Lefèvre C, Besson R, Cools M, Spinoit A F, Sultan C, Manouvrier S, Philibert P, Ghoumid J
CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
EA 7364, RADEME, Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Université de Lille, Lille, France.
Clin Genet. 2017 Jul;92(1):99-103. doi: 10.1111/cge.12957. Epub 2017 Feb 22.
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.
类固醇生成因子1（由SF1/NR5A1编码）是一种转录因子，其多个靶基因参与多种类固醇生成和非类固醇生成组织的发育和功能。NR5A1突变会导致多种表型，包括性反转、精子发生失败、卵巢早衰和肾上腺皮质功能不全。最近，NR5A1突变与脾脏发育异常的关联受到了关注。我们提供了这一关联的新证据，描述了一名患有多脾症的46,XY性发育障碍女性先证者及其患有尿道下裂和无脾症的父亲中存在一种新的杂合无义NR5A1突变。
