Fig. 1: Results of brain MRI and molecular investigations. | Human Genome Variation

Fig. 1: Results of brain MRI and molecular investigations.

From: Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism

Fig. 1

T1- (a) and T2-weighted axial images (b) of patient 1 examined at 4 years old. A –T2-high-signal is noted in the white matter, indicating hypomyelination. c Electropherograms of Sanger sequencing depicted in the family tree. Variants in HSPD1 and HIP1 are identified only in patient 1 and patient 2, respectively. Alternatively, the MECP2 variant is identified in both patients as hemizygous and in their mother as heterozygous, indicating an X-linked recessive variant

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