Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Genetests:

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

Related Diseases:

SERKAL syndrome
WNT4
Müllerian aplasia and hyperandrogenism
WNT4

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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.

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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.

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16.

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

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Update: Sept. 26, 2018