Figure 5

Figure 5

Sanger sequence analysis of MED14 V763A and L1CAM Q498H variants in the patient, his parents, and his healthy brother. (A) The mother carries both alleles with A and G The patient and his healthy brother inherited the same alleles with G, resulting in the same MED14 V763A variant as indicated by red arrows. The PCR-Rev primer was used for sequencing. (B) Patient’s mother carries T and G alleles (red arrow). The patient inherited the allele with G (red arrow), resulting in the L1CAM^Q498H variant and his healthy brother inherited the allele with T (see black arrow). His father’s allele also has a T (black arrow). PCR-Fwd primer was used for sequencing.