Shoc2 mutations causing noonan-like syndrome with loose...

Details Shoc2 mutations causing noonan-like syndrome with loose... Shoc2 mutations causing noonan-like syndrome with loose...

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C07K 14/47 (2006.01)

Patent

CA 2760943

The present invention is directed to methods of diagnosing Noonan-like syndrome with loose anagen hair comprising detecting a mutation in SHOC2 gene. One specific diagnostic mutation disclosed is an A-to-G transition at position 4 resulting in a mutation at position 2 of SHOC2 amino acid sequence from serine to glycine. The invention also provides related sequences and kits.

Cette invention concerne des méthodes de diagnostic du syndrome de type Noonan avec cheveux anagènes caducs, lesdites méthodes consistant à détecter une mutation dans le gène SHOC2. L'invention concerne une mutation spécifique du diagnostic à savoir la transition A-à-G en position 4 aboutissant à une mutation en position 2 de la séquence d'acides aminés SHOC2 d'une sérine en glycine. L'invention concerne par ailleurs des séquences et des kits associés.

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