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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

Fig. 1

Molecular genetic tests and neurochemical analysis results in the index patient. a. Family tree of the proband and Sanger sequencing results in this study. Sanger sequencing validated the mutation, c.1181C > A (p.Thr394Lys), in the SLC6A8 gene in family members as I:1 wildtype, I:2 heterozygous carrier, II:1 hemizygous, II:2 hemizygous and II:3 wildtype. b. Proton magnetic resonance spectroscopy (MRS), examination using a 3.0-T system on the brain showed marked reduction of the brain creatine peak (left part), and brain MRI showed a thin corpus callosum in the proband (right part)

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BMC Medical Genetics

ISSN: 1471-2350

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