Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Protein Wnt-4

The WNT4 encodes a secreted signal peptide which in particular is involved in sexual development. Mutations cause autosomal recessive SERKAL syndrome or dominant Müllerian aplasia and hyperandrogenism.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

SERKAL syndrome
Müllerian aplasia and hyperandrogenism



Tomizuka K et al. (2008) R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling.

external link

Naillat F et al. (2010) Wnt4/5a signalling coordinates cell adhesion and entry into meiosis during presumptive ovarian follicle development.

external link

Ottolenghi C et al. (2007) Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.

external link

Garnis C et al. (2005) Involvement of multiple developmental genes on chromosome 1p in lung tumorigenesis.

external link

Jordan BK et al. (2001) Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

external link

Brisken C et al. (2000) Essential function of Wnt-4 in mammary gland development downstream of progesterone signaling.

external link

Huguet EL et al. (1994) Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue.

external link

Stark K et al. (1994) Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4.

external link

Mandel H et al. (2008) SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

external link

Vainio S et al. (1999) Female development in mammals is regulated by Wnt-4 signalling.

external link

Philibert P et al. (2008) Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.

external link

Biason-Lauber A et al. (2007) WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.

external link

Biason-Lauber A et al. (2004) A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.

external link

Gavin BJ et al. (1990) Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development.

external link

Chassot AA et al. (2008) Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.

external link

Guo X et al. (2004) Wnt/beta-catenin signaling is sufficient and necessary for synovial joint formation.

external link

NCBI article

NCBI 54361 external link

OMIM.ORG article

Omim 603490 external link

Orphanet article

Orphanet ID 120540 external link

Wikipedia article

Wikipedia EN (WNT4) external link
Update: Aug. 14, 2020
Copyright © 2005-2022 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits