A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset

Vazza, Giovanni; Merlini, Luciano; Bertolin, Cinzia; Zortea, Michela; Mostacciuolo, Maria Luisa

doi:10.1016/j.nmd.2006.09.002

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…Mostacciuolo et al (2001) described 12 mutations in the GJB1 gene and reported a similar mutation frequency (20.3%). Four of the mutations identified (Tyr7Cys, Thr8Pro, Arg164Trp and Phe193_Met19insTVF) were already reported in our population (Mostacciuolo et al 2001;Vazza et al 2006). Three aminoacidic residues (Arg22, Ser182 and Arg164) were affected in more than one family, confirming that they are hot spots for mutations.…”

Section: Discussionsupporting

confidence: 77%

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

et al. 2008

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Section: Discussionsupporting

confidence: 77%

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

et al. 2008

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“…A previously reported case of the same mutation (p.Thr191_ Phe193dup) presented with peripheral neuropathy but without central manifestiation. 2 There has also been a report of the mutation at a similar location resulting in CNS manifestaions. 5 However, it is unclear why CNS symptoms manifest in only a few patients, and so further studies are required to clarify the genotype-phenotype relationship in CMTX1.…”

Section: Discussionmentioning

confidence: 99%

“…Sequence analysis of GJB1 revealed a duplication of nine bases (c.572_580dup, [p.Thr191_Phe193dup]), which had previously been reported as a pathogenic mutation. 2 We also examined his mother, and noted that she had pes cavus deformity and depressed deep tendon reflexes. Her NCS results also indicated sensorimotor polyneuropathy, and a DNA study showed that she carried the same mutation.…”

mentioning

confidence: 99%

A case of X-linked Charcot-Marie-tooth disease type 1 manifesting as recurrent alternating hemiplegia with transient cerebral white matter lesions

Kang¹,

Hwang²,

Shin³

et al. 2021

ACN

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X-linked Charcot Marie Tooth disease type 1 (CMTX1) is a clinically heterogenous X-linked hereditary neuropathy caused by mutation of the gene encoding gap junction beta 1 protein (GJB1). Typical clinical manifestations of CMTX1 are progressive weakness or sensory disturbance due to peripheral neuropathy. However, there have been some CMTX1 cases with accompanying central nervous system (CNS) manifestations. We report the case of a genetically confirmed CMTX1 patient who presented recurrent transient CNS symptoms without any symptom or sign of peripheral nervous system involvement.

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Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

et al. 2017

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Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation. A systematic computer-based literature search was conducted on PubMed, using the following MeSH: (1) intermediate Charcot-Marie-Tooth; (2) X-linked intermediate Charcot-Marie-Tooth; and (3) X-linked Charcot-Marie-Tooth and electrophysiology. We retrieved 225 articles reporting X-linked CMT or intermediate CMT with electrophysiological information. After eligibility, 156 papers were used for this review. In assessing median MNCV, compound muscle action potential (CMAP) amplitudes were taken into account. In cases with attenuated CMAP and wherever possible, proximal median MNCV was used for accurate definition of conduction slowing in the intermediate range. In the vast majority of males with X-linked CMT associated with GJB1 mutation (CMTX1), median MNCV was intermediate. CMT associated with DRP2 mutation is another well-documented X-linked intermediate disorder. Autosomal dominant intermediate CMT (DI-CMT) encompasses 11 different types; six of them with assigned phenotype MIM number and the remaining five being unnumbered. Based on available electrophysiological information, we wonder if DI-CMTA should be reclassified within CMT2. Autosomal recessive intermediate CMT (RI-CMT) covers four numbered MIM phenotypes though, in accordance with reported electrophysiology, two of them (RI-CMTB and RI-CMTD) should probably be reclassified within AR-CMT2. We conclude that intermediate CMT is a complex inherited syndrome, whose characterization requires a specific electrophysiological protocol comprising evaluation of upper limb proximal nerve trunks when distal CMAP amplitudes are reduced, and that an updated version of MIM phenotype numbering is needed.

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A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset

Cited by 4 publications

References 9 publications

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

A case of X-linked Charcot-Marie-tooth disease type 1 manifesting as recurrent alternating hemiplegia with transient cerebral white matter lesions

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

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