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Figure 8 | Genome Medicine

Figure 8

From: Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Figure 8

Segregation of nonsense and complex alleles of SH3TC2 in a family with Charcot-Marie-Tooth neuropathy. Previously reported nonsense variant (p.R954X) was inherited from the maternal line; reported missense p.Y169H and newly identified p.M1? variants are in cis inherited from the paternal line and segregating with the axonal neuropathy phenotype in the family. Individuals that inherited both the nonsense and complex allele present with CMT neuropathy.

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Genome Medicine

ISSN: 1756-994X

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