Skip to main content
. 2017 Dec 18;27(4):589–600. doi: 10.1093/hmg/ddx426

Figure 2.

Figure 2.

Additional FRMPD4 Mutations in Affected Individuals with XLID. (A) Established domain structure of FRMPD4 and nature and locations of FRMPD4 mutations found in patients with ID. WW (domain with two conserved Trp residues): PDZ (PSD-95/Dlg/ZO-1): RA; FERM (four-point-one, ezrin, radixin, and moesin). (B) Genomic structure of FRMPD4 and genomic location of family 3 microdeletion. (C) Pedigrees and segregation analysis of FRMPD4 mutations identified in families 2, 3 and 4. Filled square, affected males; open square, unaffected males; circle with a center dot, unaffected carrier female; filled circle with a center dot, mildly disabled carrier female. (D) Brain MRI scans of P6 (at 12 years) and P7 (at 17 years) from Family 2. Note diffuse atrophy of white matter principally in the periventricular region, delayed myelination with periventricular white matter atrophy of P6 (top panel, axial T1), and compare to cortical atrophy and enlarged ventricles of P7 (bottom panel, axial T2). (E) Photographs of family 3 probands and their mildly disabled sister. (F) Proband of family 4 at different ages. Note frontal upsweep, trigonocephaly and broad nasal bridge.