Serkal syndrome ... (Serkal Syndrome) - Gen WNT4.
Serkal syndrome (Sex Reversal and dysgenesis of Kidneys, Adrenals, and Lungs), is a disorder characterized by sex reversal and abnormal development of the kidneys, adrenals and lungs.
This process is due to a mutation in the gene WNT4, located on the short arm (p) of chromosome 1 (1p36.23-p35.1), which encodes a protein important for the formation of the female reproductive system, kidney, and various hormone - producing glands. During the development of the female reproductive system, the protein regulates the formation of the Mullerian ducts, which are structures that will place the uterus, fallopian tubes, cervix and upper vagina. This protein is also involved in the development of the ovaries, from before birth to adulthood, and it is important for the development and maintenance of eggs from the ovaries.
The mutation that causes Serkal syndrome involves amino acid substitution of alanine for valine at position 114 (A114V or Ala114Val). This mutation is present in both copies of the gene in every cell WNT4 and is likely to eliminate the function of the protein WNT4.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome Serkal, by complete PCR amplification of the exons of the gene WNT4 and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).