Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese

Chen, Shyue-Ru; Lin, Kon‐Ping; Kuo, Hung‐Chou; Chen, Chiung‐Mei; Hsieh, Sung‐Tsang; Lee, Ming-Jen; Yang, Chih‐Chao; Liu, Chin‐San; Huang, Chin‐Chang; Lyu, Rong‐Kuo; Ro, Long‐Sun

doi:10.1016/j.clineuro.2008.02.002

Cited by 5 publications

(6 citation statements)

References 22 publications

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“…The CMT1A patient mean CMT neuropathy score (CMTNS) was 14.2 ± 2.8 (range 10–20). The clinical features of this study sample are consistent with reports from South Korean, Japanese, and Taiwanese populations – …”

Section: Resultssupporting

confidence: 89%

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1

Zhan

et al. 2015

Muscle Nerve

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Section: Resultssupporting

confidence: 89%

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1

Zhan

et al. 2015

Muscle Nerve

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“…A wide range of techniques is available for molecular testing of CMT1A/HNPP [18,22,23,[30][31][32][33]. However the faster, cost-effective and reliable method is the analysis of a panel of 15 STRs based on the detection of, at least, two STRs with a trisomic triallelic pattern indicating with certainty the presence of the CMT1A duplication.…”

Section: Discussionmentioning

confidence: 99%

“…However the faster, cost-effective and reliable method is the analysis of a panel of 15 STRs based on the detection of, at least, two STRs with a trisomic triallelic pattern indicating with certainty the presence of the CMT1A duplication. The main disadvantage of this method reside in the possible uninformativity of the STRs, which might also be affected by the ethnicity, and in the uncertain identification of the pathogenic duplication when only STRs with a biallelic pattern are disclosed [19,20,23]. In fact, in case of duplication with a biallelic pattern, this approach could only indicate a semi-quantitative dosage of the allele intensities, hence, demonstrating a sensitivity and a specificity lower than 100% [23].…”

Section: Discussionmentioning

confidence: 99%

“…Some of them are time-consuming and laborious (RFLP Southern blotting, PFGE and FISH on interphase nuclei); short tandem repeats (STRs) analysis is rapid and cost-effective but a triallelic pattern has to be disclosed to confirm with certainty the presence of the duplication. In fact, in case of duplication with a biallelic pattern, STRs analysis could only indicate a semi-quantitative dosage of the two fragments with 2:1 fluorescence intensity ratio [18][19][20][21][22][23].…”

Section: Introductionmentioning

confidence: 99%

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Quantitative Fluorescence-Polymerase Chain Reaction Assay for the Detection of the Duplication of the Charcot Marie Tooth Disease Type 1A Critical Region

Toffol¹,

Bellone

Dulcetti³

et al. 2010

Genetic Testing and Molecular Biomarkers

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Charcot Marie Tooth (CMT) syndrome is the most common hereditary peripheral neuropathy, with an incidence of about 1 in 2500. The subtype 1A (CMT1A) is caused by a tandem duplication of a 1.5-Mb region encompassing the PMP22 gene. Conventional short tandem repeat (STR) analysis can reveal this imbalance if a triallelic pattern, defining with certainty the presence of duplication, is present. In case of duplication with a biallelic pattern, it can only indicate a semiquantitative dosage of the fluorescence intensity ratio of the two fragments. In this study we developed a quantitative fluorescence-PCR using seven highly informative STRs within the CMT1A critical region that successfully disclosed or excluded the presence of the pathogenic imbalance in a cohort of 60 samples including 40 DNAs from samples with the CMT1A duplication previously characterized with two different molecular approaches, and 20 diagnostic samples from 10 members of a five-generation pedigree segregating CMT1A, 8 unrelated cases and 2 prenatal samples. The application of the quantitative fluorescence-PCR using STRs located in the critical region could be a reliable method to evaluate the presence of the PMP22 duplication for the diagnosis and classification of hereditary neuropathies in asymptomatic subjects with a family history of inherited neuropathy, in prenatal samples in cases with one affected parent, and in unrelated patients with a sporadic demyelinating neuropathy with clinical features resembling CMT (i.e., pes cavus with hammer toes) or with conduction velocities in the range of CMT1A.

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“…Molecular genetic studies of HNPP in Chinese families are still rare, except for the reports by Zhang et al [24], Cui et al [25] and Chen et al [26]. Given that some HNPP patients might be sporadic cases or clinically free of symptoms, molecular genetic tests will still be very important for a definite diagnosis of HNPP [27].…”

Section: Discussionmentioning

confidence: 99%

Hereditary Neuropathy with Liability to Pressure Palsy: An Investigation in a Rare and Large Chinese Family

et al. 2012

Eur Neurol

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Background: Hereditary neuropathy with liability to pressure palsy (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited peripheral neuropathy. The present large family including four generations provides an exciting opportunity to gain important insights into HNPP in China. Patients and Methods: A large 43-member family with ten members suspected to be affected by HNPP was studied. Neurologic examinations, electrophysiological and neuropathological studies and molecular genetic testing were used for these kindred. Results: Clinically, the proband had limb hyposthenia and atrophy, and his mother showed declined tendon reflexes in the right lower limb. Electrophysiologically, sensory and motor nerve conduction velocities were generalized reduced. Sural nerve biopsy for the proband showed focal thickesning of the myelin sheaths. Furthermore, real-time quantitative PCR demonstrated that the PMP22 gene has a higher Ct value than reference gene in all suspected patients. Conclusions: These results indicated that the family is indeed a rare and large pedigree of HNPP caused by the deletion of PMP22 gene. Given that the suspected patient in the fourth generation is absent, this family is still worthy of further follow-up study.

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Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese

Cited by 5 publications

References 22 publications

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1

Quantitative Fluorescence-Polymerase Chain Reaction Assay for the Detection of the Duplication of the Charcot Marie Tooth Disease Type 1A Critical Region

Hereditary Neuropathy with Liability to Pressure Palsy: An Investigation in a Rare and Large Chinese Family

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