Skip to main content
Fig. 2 | Molecular Autism

Fig. 2

From: Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation

Fig. 2

Sanger sequencing diagram of MECP2 and other genes variations in autism core family. a P.660 showed heterozygous mutation c.455C>T of MECP2, parents indicated homozygote (CC/C). b P.138 showed heterozygous mutation c.880C>T of MECP2, parents indicated homozygote (CC/C). c P.548 showed heterozygous mutation c.1126C>T of MECP2, proband’s father indicated homozygote (C), but proband’s mother indicated heterozygote (CT). d P.548 showed heterozygous mutation c.209G>C of cntnap2, proband’s mother indicated homozygote (GG), but proband’s father indicated heterozygote (GC). This mutation of P.548 was inherited from his father. e P.138 showed heterozygous mutation c.5564G>A of CACNA1C, proband’s mother indicated homozygote (GG), but proband’s father indicated heterozygote (GA). This mutation of P.138 was inherited from his father. f P.138 showed heterozygous mutation c.4180A>T of NRXN1, proband’s mother indicated homozygote (AA), but proband’s father indicated heterozygote (AT). This mutation of P.138 was inherited from his father

Back to article page