Four novel cases of periaxin-related neuropathy and review of the literature

Marchesi, Chiara; Milani, Monica; Morbin, Michela; Cesani, Martina; Lauria, Giuseppe; Scaioli, V.; Piccolo, G.; Fabrizi, Gian Maria; Cavallaro, Tiziana; Taroni, Franco; Pareyson, Davide

doi:10.1212/wnl.0b013e3181fd6314

Cited by 51 publications

(59 citation statements)

References 25 publications

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“…The mutation lies within the PRX domain of the protein and has previously been described in the literature (chr19.hg19:g.40901051; rs104894708) to cause Charcot-Marie-Tooth disease type 4 F (CMT4F) and Dejerine-Sottas disease. [6][7][8][9][10][11] Sanger sequencing confirmed the PRX mutation and showed it segregated with disease in the family in a recessive manner (Figure 1). …”

Section: Multipoint Linkage Analysis Identified Four Regions Of Linkamentioning

confidence: 94%

The use of whole-exome sequencing to disentangle complex phenotypes

Hurst

Ocaka

et al. 2015

Eur J Hum Genet

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The success of whole-exome sequencing to identify mutations causing single-gene disorders has been well documented. In contrast whole-exome sequencing has so far had limited success in the identification of variants causing more complex phenotypes that seem unlikely to be due to the disruption of a single gene. We describe a family where two male offspring of healthy first cousin parents present a complex phenotype consisting of peripheral neuropathy and bronchiectasis that has not been described previously in the literature. Due to the fact that both children had the same problems in the context of parental consanguinity we hypothesised illness resulted from either X-linked or autosomal recessive inheritance. Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present. For the bronchiectasis phenotype we were unable to identify a causal single mutation or compound heterozygote, reflecting the heterogeneous nature of this phenotype. In conclusion, in this study we show that whole-exome sequencing has the power to disentangle complex phenotypes through the identification of causative genetic mutations for distinct clinical disorders that were previously masked.

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Section: Multipoint Linkage Analysis Identified Four Regions Of Linkamentioning

confidence: 94%

The use of whole-exome sequencing to disentangle complex phenotypes

Hurst

Ocaka

et al. 2015

Eur J Hum Genet

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“…Motor milestones are delayed. Patients showed a widebased ataxic gait, slowly progressive severe weakness in the distal legs at 9-10 years and in the hands at 14 to 15 years [74][75][76][77]. Pansensory loss in arms and legs in CMT4F is more severe than the motor involvement and sensory impairment is more severe than in other CMT subtypes.…”

Section: Clinical Presentationmentioning

confidence: 94%

Autosomal recessive demyelinating or axonal Charcot–Marie–Tooth neuropathy

Claeys

Lammens

Senderek

et al. 2014

Peripheral Nerve Disorders

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“…CMT4F is characterized by an early onset demyelinating neuropathy with delayed motor milestones and which is slowly progressive [132]. Patients have been reported with prominent sensory symptoms, particularly early on.…”

Section: Cmt4fmentioning

confidence: 99%