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. Author manuscript; available in PMC: 2017 Aug 14.
Published in final edited form as: Cell. 2016 Dec 1;167(6):1481–1494.e18. doi: 10.1016/j.cell.2016.11.013

Figure 5. Mutations in the human SLC7A5 lead to ASD and motor deficits.

Figure 5

(A) SLC7A5 mutations identified in families 1426 and 1465 in individuals with ASD, motor deficits and microcephaly. Pedigrees 1426 and 1465 display first-cousin consanguinity, five and two affected patients (solid symbols) respectively and unaffected members (open symbols)

(B) MRI from one patient for each family showing microcephaly and thin corpus callosum but normal axial T1 sequence of the brain. Control child brain MRIs were obtained from unrelated individuals.

(C) Clinical presentation of patients from family 1426 and 1465. HC, head circumference; SD, standard deviation; GTC, generalized tonic clonic; N/A not available; CC, corpus callosum.

See also Table S2.