Birman

PKD - Polycystic Kidney Disease

Kidney failure

Description: Cysts compressing the renal tissue and preventing a correct kidney functioning

Symptoms : Excessive water consumption, excessive urine volume, weight loss, vomiting, lethargy, chronic and ultimately fatal renal failure

Age of onset : Between 2 and 10 years old

Frequency : Not available

Gene involved : PKD1

Tested mutation : C.10063C>A

Transmission : Autosomal Dominant

Patent : _

Notes : The study of PKD mutation frequency shows a significant decrease since 2006 in the tested population.

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Birman

NUDE - Nude Syndrom

Hairless

Description: Hairless associated with increased sensitivity to infections

Symptoms : Hairless at birth, wrinkled skin, developpment of sparse short fur with attenuated whiskers during growth, no adult hair, increased sensitivity to infections leading to death

Age of onset : At birth

Frequency : 3,2% carriers in French population

Gene involved : -

Tested mutation : -

Transmission : Autosomal Recessive

Patent : -

Notes : The research was led by the team of Dr Marie Abitbol (ENVA, France) in collaboration with Antagene.

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