GDAP1 mutations in Czech families with early-onset CMT

Baránková, Lucia; Vyhnálková, Emílie; Züchner, Stephan; Mazanec, Radim; Sakmaryová, Iva; Vondráček, Petr; Merlini, Luciano; Bojar, Martin; Nelis, Eva; Jonghe, Peter De; Seeman, Pavel

doi:10.1016/j.nmd.2007.02.010

Cited by 18 publications

(12 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Some individuals having frameshift or nonsense mutations in the heterozygous state have been reported as normal (Stojkovic et al 2004;Baránková et al 2007); however, the Q218E mutation in this study seems to be less drastic, but symptomatic. One plausible explanation is that heavily damaged GDAP1 proteins would be completely (Fig.…”

Section: Resultscontrasting

confidence: 69%

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

et al. 2008

View full text Add to dashboard Cite

A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the gangliosideinduced differentiation-associated protein 1 (GDAP1) gene, such as axonal, demyelinating, and intermediate forms of AR CMT. There have been very few reports of GDAP1 mutations in autosomal dominant (AD) CMT. Here, we report an AD CMT family with a novel Q218E mutation in the GDAP1 gene. The mutation was located within the well-conserved glutathione S-transferase (GST) core region and co-segregated with the affected members in the pedigree. The affected AD CMT individuals had a later disease onset and much milder phenotypes than the AR CMT patients, and the histopathologic examination revealed both axonal degeneration and demyelination.

show abstract

Section: Resultscontrasting

confidence: 69%

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

et al. 2008

View full text Add to dashboard Cite

show abstract

“…Sanger sequencing of index patient confirmed the presence of the compound heterozygous mutations of GDAP1 gene, their parents considered as carries GDAP1 gene. The c.571C>T(R191X) mutation was reported in3 Czech CMT patients whose clinical manifestation was similar to the patient of family 3 31. The c.589delC(D198Ifs*8) mutation was an indel mutation, which predicts a truncation of the GDAP1 protein in front of the functional GST_C domain that are necessary for the proper localization of GDAP1 to mitochondrial membranes 32.…”

mentioning

confidence: 90%

Clinical and genetic investigation in Chinese patients with demyelinating Charcot‐Marie‐Tooth disease

Guo

et al. 2018

J Peripheral Nervous Sys

View full text Add to dashboard Cite

Demyelinating Charcot-Marie-Tooth disease (CMT) is the most common subtype of CMT. It is caused mainly by 17p11.2 heterozygous duplication, but also by mutations in more than 20 genes which affect development and function of Schwann cells. To investigate the profile of genes mutated and clinical features in demyelinating CMT of Chinese descent, we collected a cohort of 44 demyelinating CMT patients and screened them using multiplex ligation-dependent probe amplification (MLPA) and targeted next-generation sequencing (NGS) technology. The MLPA technology revealed that 77.3% demyelinating CMT patients harbored 17p11.2 heterozygous duplication and 6.8% patients harbored heterozygous deletion of exon 6 of MPZ gene, that was further confirmed a novel c.674_675insA mutation in MPZ gene. In the patients with 17p12 heterozygous duplication, 3 sets of independent families were discordant for the CMT phenotype within the same family. The targeted NGS technology revealed that 6 candidate mutations including 1 previously reported mutation (GDAP1: c.571C>T) and 5 novel mutations (SBF2: c.415T>C, c.619G>T, c.1258A>G; GDAP1: c.589delC; PMP22: c.318delT) were found. In conclusion, combined MLPA technique with targeted NGS, the demyelinating CMT genetic diagnostic success rate was increased.

show abstract

“…26,27 Some GDAP1 mutations cause early-onset neuropathies and, rarely, the Dejerine-Sottas phenotype, 28 whereas others cause the Charcot-Marie-Tooth phenotype with normal early milestones but development of disability and severe motor deficits in the distal lower limbs within the first decade of life. 29 The GDAP1 gene mutations causing very early-onset neuropathy (<6 months of life) are poorly reported. Usually, prominent foot deformity, scoliosis, 1 and weakness are the symptoms present at onset, 21,28 with both demyelination and axonopathy phenotypes.…”

Section: Discussionmentioning

confidence: 99%

“…Most patients require surgical treatment due to severe foot deformity after 2 years. 29 However, at the age of 1 year, normal motor milestones and normal neurological examinations are frequently described. 20,29-33 Our patient displayed axial hypotonia, bilateral pes planus, foot drop, and areflexia at onset at the age of 5 months.…”

Section: Discussionmentioning

confidence: 99%

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

et al. 2011

View full text Add to dashboard Cite

Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene may cause severe early-onset inherited neuropathies. Here, the authors report a clinical and neurophysiological follow-up of a Pakistani child with a very early-onset neuropathy carrying a novel homozygous mutation in the GDAP1gene. They discuss the relationship between the several forms of Charcot-Marie-Tooth disease presenting in the first months of life and focus on the literature of GDAP1-associated early-onset neuropathy. This case further expands on the clinical spectrum and the genetic heterogeneity of early-onset inherited neuropathy due to GDAP1 gene mutations.

show abstract

GDAP1 mutations in Czech families with early-onset CMT

Cited by 18 publications

References 16 publications

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

Clinical and genetic investigation in Chinese patients with demyelinating Charcot‐Marie‐Tooth disease

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

Contact Info

Product

Resources

About