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Fig. 1 | BMC Medical Genetics

Fig. 1

From: The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA

Fig. 1

Pedigree, clinical manifestation and molecular analysis of the family. a Pedigree of the family. Male and female are indicated by squares and circles, respectively. Full filled symbols represent HSAN affected individuals. Half full filled symbols represent WNK1 defect healthy carriers. Black symbols represent p.Leu916Ter carriers. Grey symbols represent CNV carriers. +/−, represents heterozygous p.Leu916Ter carrier. CNV/−, represents heterozygous CNV carrier. CNV/+, represents hemizygous p.Leu916Ter carrier. −/−, represents wild type. b Photos of two patients’ “burning feet and hands”. c Confirmatory Sanger sequencing map of the p.Leu916Ter variant in WNK1 gene of the family and the evolutionary conservation status across multiple species

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BMC Medical Genetics

ISSN: 1471-2350

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