Key result
Whole-exome sequencing identifies novel PNPLA6 mutations causing Boucher-Neuhäuser syndrome in a Korean family.
Case Report (n=2)
No
This report identifies a novel PNPLA6 mutation (c.2912C>G) in the first documented Korean family with Boucher-Neuhäuser syndrome.
Case reports of PNPLA6 mutations in BNS siblings support targeted testing; leaves open prevalence and phenotype correlations.
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Chung et al. (2022) conducted a case report in Boucher-Neuhäuser syndrome (n=2). PNPLA6 compound heterozygous mutations (c.3373G>A and c.2912C>G) was evaluated on Genetic diagnosis via whole-exome sequencing. Whole-exome sequencing identified compound heterozygous mutations in PNPLA6, including a novel c.2912C>G mutation, as the cause of Boucher-Neuhäuser syndrome in a Korean family.
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