A linkage study of the locus for X‐linked Charcot‐Marie‐Tooth disease

Goonewardena, P.; Welihinda, J.; Anvret, Maria; Gyftodimou, Jolanda; Haegermark, A.; Iselius, Lennart; Lindsten, J.; Pettersson, Ulf

doi:10.1111/j.1399-0004.1988.tb03477.x

Cited by 13 publications

(3 citation statements)

References 10 publications

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“…With the demonstration of linkage in this single family to DXYS1 with a maximum lod score of 4.55 at 0.03 and 4.51 at 0.05 recombination fractions and also to PGKl with a maximum lod score of 3.34 at 0.0 recombination fraction, the CMTX locus is shown to be proximal to DXYSl. These results confirm suggestions made by other groups - Goonewardena et al (1988), Fischbeck et al (1986), Gal et al (1985), Beckett et al (1986), Rozear et al (1987) and Kelly et al (1987) who have reported results consistent with the present findings that DXYS1 is linked to the CMTX locus. Other groups have placed the CMT locus proximal to DXYS1 based on linkage or deletion mapping - Kelly et al (1987), Beckett et al (1986) and Goonewardena et al (1988).…”

Section: Linkagesupporting

confidence: 94%

“…These results confirm suggestions made by other groups - Goonewardena et al (1988), Fischbeck et al (1986), Gal et al (1985), Beckett et al (1986), Rozear et al (1987) and Kelly et al (1987) who have reported results consistent with the present findings that DXYS1 is linked to the CMTX locus. Other groups have placed the CMT locus proximal to DXYS1 based on linkage or deletion mapping - Kelly et al (1987), Beckett et al (1986) and Goonewardena et al (1988). Fischbeck et al (1986) and Goonewardena et al (1988) also suggested that the CMTX locus was proximal to DXYS1 by linkage with locus DXY 14 (p58.1).…”

Section: Linkagesupporting

confidence: 94%

“…Other groups have placed the CMT locus proximal to DXYS1 based on linkage or deletion mapping - Kelly et al (1987), Beckett et al (1986) and Goonewardena et al (1988). Fischbeck et al (1986) and Goonewardena et al (1988) also suggested that the CMTX locus was proximal to DXYS1 by linkage with locus DXY 14 (p58.1). Analysis of two triple-informative cross-overs in this study gave results consistent with a gene order PGKl-CMTX-DXYSI.…”

Section: Linkagementioning

confidence: 99%

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Linkage in a family with X‐linked Charcot‐Marie‐Tooth disease

et al. 1989

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The gene for the X‐linked form of Charcot‐Marie‐Tooth disease (CMT Peroneal Muscular Atrophy, X‐linked: McKusick No. 30280) has been shown in a single family to be linked to DXYSI with a lod score of 4.55 at a recombination fraction of 0.03 and to PGK1 with a lod score of 3.34 at zero recombination. This is in agreement with previous work based on several families. Pooled data from this family and 7 previously reported families give a maximum lod score of 12.04 at θmax of 0.05 for linkage between CMTX and DXYS1 loci.

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Section: Linkagesupporting

confidence: 94%

Section: Linkagesupporting

confidence: 94%

Section: Linkagementioning

confidence: 99%

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Linkage in a family with X‐linked Charcot‐Marie‐Tooth disease

et al. 1989

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Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy

1996

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We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X‐linked Charcot‐Marie‐Tooth (CMTX1) neuropathy. Twenty‐two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight missense mutations, two medium size deletions, and one insertion. Most missense mutations showed a mild clinical phenotype (five out of eight), whereas all nonsense mutations, the larger of the two deletions, and the insertion that produced frameshifts showed severe phenotypes. Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region. Three of these families showed positive genetic linkage with the markers of the Xq13.1 region. The genetic linkage of the remaining two families could not be evaluated because of their small size. © 1996 Wiley‐Liss, Inc.

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X‐linked Charcot‐marie‐tooth Disease and Connexin32

Ionâşescu

1998

Cell Biology International

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We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations showed a mild clinical phenotype and slowing of motor nerve conduction velocities. All five nonsense mutations, the larger deletion and the insertion showed severe clinical phenotype. Four CMTX1 families with mild clinical phenotype showed no point mutations of the Cx32 gene coding region. Two mutations of the non-coding region were identified. The first mutation was located in the nerve specific Cx32 promoter, the second mutation was located in the 5' untranslated region of the mRNA.

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A linkage study of the locus for X‐linked Charcot‐Marie‐Tooth disease

Cited by 13 publications

References 10 publications

Linkage in a family with X‐linked Charcot‐Marie‐Tooth disease

Linkage in a family with X‐linked Charcot‐Marie‐Tooth disease

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy

X‐linked Charcot‐marie‐tooth Disease and Connexin32

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