Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

X-linked Charcot-Marie-Tooth disease type 5

Charcot-Marie-Tooth disease type 5 is an x-linked recessive disorder caused by mutations of the PRPS1 gene.

Systematic

Charcot-Marie-Tooth disease
INF2
X-linked Charcot-Marie-Tooth disease type 5
PRPS1

References:

1.

Kim HJ et. al. (2007) Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

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2.

Park J et. al. (2013) Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

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3.

Synofzik M et. al. (2014) X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

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4.

Robusto M et. al. (2015) The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

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5.

Almoguera B et. al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

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6.

Rosenberg RN et. al. (1967) Familial opticoacoustic nerve degeneration and polyneuropathy.

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7.

None (1984) Sensorineural deafness and peripheral neuropathy.

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8.

Kim HJ et. al. (2005) A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

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Update: Sept. 26, 2018