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Clin Genet. 2017 Jul;92(1):99-103. doi: 10.1111/cge.12957. Epub 2017 Feb 22.

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

Author information

1
CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
2
EA 7364, RADEME, Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Université de Lille, Lille, France.
3
CHU Lille, Service de Chirurgie Viscérale Pédiatrique, Lille, France.
4
CHU Lille, Service d'Endocrinologie Pédiatrique, Lille, France.
5
CHU Lille, Institut de pathologie, Lille, France.
6
CHU Lille, Pédopsychiatrie, Lille, France.
7
Endocrinologie & Diabetologie voor kinderen en adolescenten, Universitair Ziekenhuis Gent, Belgium.
8
Urologie, Universitair Ziekenhuis Gent, Belgium.
9
Département de Biochimie et Hormonologie, CHU Montpellier, France.
10
Université de Montpellier, CNRS UPR 1142 Institut de génétique Humaine, Equipe "Développement et Pathologie de la Gonade", Montpellier, France.

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; SF1; c.1227C>A; spleen development

PMID:
28032338
DOI:
10.1111/cge.12957
[Indexed for MEDLINE]

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