The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

doi:10.1038/ejhg.2014.168

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Article

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

European journal of human genetics : EJHG - 1 Jun 2015

Robusto Michela, Fang Mingyan, Asselta Rosanna, Castorina Pierangela, Previtali Stefano C, Caccia Sonia, Benzoni Elena, De Cristofaro Raimondo, Yu Cong, Cesarani Antonio, Liu Xuanzhu, Li Wangsheng, Primignani Paola, Ambrosetti Umberto, Xu Xun, Duga Stefano, Soldà Giulia

Abstract excerpt

Next-generation sequencing is currently the technology of choice for gene/mutation discovery in genetically-heterogeneous disorders, such as inherited sensorineural hearing loss (HL). Whole-exome sequencing of a single Italian proband affected by non-syndromic HL identified a novel missense variant within the PRPS1 gene (NM_002764.3:c.337G>T (p.A113S)) segregating with post-lingual, bilateral, progressive...

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PMID: 25182139
DOI: 10.1038/ejhg.2014.168
PMCID: PMC4270732

Genes

PRPS1

Variants

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