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. 2019 Apr 10;142(5):1242–1254. doi: 10.1093/brain/awz075

Figure 1.

Figure 1

Large consanguineous pedigree from Northern Pakistan. Affected members of the family present with a complex developmental disorder affecting multiple tissues segregating as an autosomal recessive condition. Two affected individuals (Patients NA and AA) from two separate branches of the family were selected for exome sequencing. Cells derived from an unaffected healthy sibling (Subject RG) and an affected individual (Patient AA) were used in the functional studies. Individuals NA, RG and AA are indicated with arrows. The cG745A mutation reported in this family was confirmed by Sanger sequencing (Fig. 3) in 10 family members marked with an asterisk. Their corresponding genotypes (G/G, G/A, A/A) are given.