Whole exome sequencing and Sanger sequencing:
Through the use of a new Whole Exome Sequencing (CentoXome Gold®)
diagnostic strategy, results show in exon 5 a new heterozygous mutation
c.662G> T in the SGCE gene in the index case. The
father also wears the same variant, so the transmission is subject to
parental imprinting. The mother does not carry the variant. TheSGCE c.662G> T variant was confirmed by Sanger
sequencing us explained above. Results showed the presence of the
mutation in heterozygote status for both the index and the father
(Figure 2) (ClinVar accession SCV001737568). Another mutation has been
found in intronic region (intron 5/10): c.662+99G> T. This
variant is benign as it’s a very commun polymorphism in African
populations (Varsom database)