The putative mutation was validated via Sanger, sequencing the DNA of 9 family members with the following primers: Forward (AGCCTTGTTAAGGTGCTCGCT) and Reverse (GCTTGATGTTGGCCTCTGGA). Sequencing was performed using BigDye Terminator v3.1 cycle sequencing, and the obtained sequences were analyzed on an ABI 3000 DNA Analyzer (Applied Biosystems).