Fig 1.
General scheme describing the workflow of molecular tests performed for each type of malformation.
Table 1.
Phenotypic characteristics of individuals with a molecular diagnosis.
Table 2.
Details of germline mutations.
Table 3.
Details of somatic mutations.
Fig 2.
Pedigree structures, brain MRI and molecular findings for individuals MDC1019 (A1, A3), MDC1020 (A1, A2, A3), MDC1070 (B1, B2, B3) and MDC1034 (C1, C2, C3).
A2. Coronal T1 MRI image shows isolated heterotopic nodule adjacent to the right lateral ventricle (arrow). B2. Inversion-Recovery Coronal MRI images show a posterior (P > A) band of subcortical heterotopia as well as simplified gyri and a thin layer of white matter between the cortex and band.C2. Coronal T1-WI shows a diffuse thick (>12mm) subcortical heterotopic band. A3. Sanger sequencing of FLNA gene showing the presence of both alleles in patients MDC1019 and 1020. B3. NGS (left) and Sanger sequencing after subcloning (right) of PAFAH1B1 gene of patient 1070, showing the presence of the somatic mutation (alt allele) in both cases. C3. NGS (left) and Sanger (right) sequencing for DCX gene of patient 1034. The mutation is present at the X chromosome of the patient (male) but absent in the mother. Please consider that the Sanger sequencing was performed on the coding strand (reverse of reference).