Hypospadias and Exome: Identification of New Genes for Familial Hypospadias
Hypospadias and Exome: Identification of New Genes for Familial Hypospadias
Hypospadias is the second most common malformation of the male genitalia and consists in a
 congenital hypoplasia of its ventral face. Hypospadias results from abnormal development of
 the penis that leaves the urethral meatus proximal to its normal glanular position. Meatus
 position may be located anywhere along the penile shaft, but more severe forms of hypospadias
 may have a urethral meatus located at the scrotum or perineum. Glandular and penile anterior
 represents approximately 70% of all the diagnosed cases.

 The frequency of family reached depend on the severity of hypospadias. The number of children
 which have hypospadias mutation discovered by classical technique is low. Families are often
 the cause of the discovery of new genes involved in sexual differentiation because they allow
 comparison of genomes of related persons, and detect more easily mutations.
The aim of this protocol is to search for new genes involved in genital malformations such as
 hypospadias. Addressed to families with usual causes of these malformations excluded. The
 search for these mutations will be done by exome sequencing in families where several cases
 of hypospadias were identified.
Inclusion Criteria:

 -  Hypospadiac patients with a familial history of hypospadias

 Exclusion Criteria:

 -  Hypospadiac patients without a family history of hypospadias

 -  Hypospadiac patients with a family history of hypospadias where etiology is identified