Physical and Genetic Mapping of the CMT4A Locus and Exclusion of PMP-2 as the Defect in CMT4A

Othmane, Kamel Ben; Loeb, Deborah B.; Hayworth-Hodgte, R.; Hentati, Fayçal; Rao, Nagesh; Roses, Allen D.; Hamida, M. Ben; Pericak‐Vance, M. A.; Vance, Jeffery M.

doi:10.1006/geno.1995.1143

Cited by 23 publications

(11 citation statements)

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“…Using FISH with a painting probe for chromosome 8 and YACs to tumor metaphase chromosomes from breast cancer cell line SK-BR-3, we have defined a region of 20-fold increased copy number between 99 cM and 111 cM on chromosome 8, just distal to the oncogenes LYN, MOS, and PENK, the salivary adenoma breakpoint region, and the branchio-otorenal syndrome locus, and just proximal to the ETO gene involved in (8;21) translocations of acute myeloid leukemia and the Cohen syndrome locus (Spurr et al, 1994). The breast cancer critical region defined in this study overlaps with the Charcot-Marie-Tooth neuropathy 4A (CMT4A) critical region (Othmane et al, 1995).…”

Section: Discussionmentioning

confidence: 79%

Molecular cytogenetic analysis of consistent abnormalities at 8q12-q22 in breast cancer

Fejzo

Godfrey

Chen

et al. 1998

Genes Chromosom. Cancer

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Studies using comparative genomic hybridization (CGH) indicate that portions of chromosome arm 8q from 8q12 to 8qter are present at an increased relative copy number in a broad range of solid tumors. In this study we define an ∼ 1 Mb wide region that appears to be frequently abnormal in copy number or structure in breast cancer cell lines and primary tumors. This was accomplished by fluorescence in situ hybridization (FISH) with yeast artificial chromosomes (YACs) mapped to 8q12‐q22. Eleven breast cancer cell lines and ten primary tumors were analyzed. A minimal region of rearrangement was localized to the CEPH‐YAC 928F9 in three breast cancer cell lines with unbalanced translocation breakpoints mapping in this region. Unbalanced translocations also were detected in two primary tumors mapping between CEPH‐YAC clones 890C4 and 936B3, flanking 928F9. An increased copy number in the minimal region was detected in nine cell lines and in multiple primary tumors. This suggests the possibility that a single gene mapping to 928F9 is involved in breast cancer development or progression and may be deregulated by copy number increases in some tumors and by translocation in others. Four expressed sequence tags were mapped to YAC 928F9 and analyzed for rearrangements by Southern analysis and for abnormal expression by Northern analysis. Genes Chromosomes Cancer 22:105–113, 1998. © 1998 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 79%

Molecular cytogenetic analysis of consistent abnormalities at 8q12-q22 in breast cancer

Fejzo

Godfrey

Chen

et al. 1998

Genes Chromosom. Cancer

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“…The involvement of various myelin proteins in CMT and the genetic heterogeneity of this disease, as well as the presence of Edg-2 mRNA in peripheral nervous system, such as the sciatic nerve, led us to consider the Edg-2 as a candidate gene for forms of autosomal dominant (Chance et al, 1990(Chance et al, , 1992 and recessive (Ben Othmane et al, 1995;Bolino et al, 1996;LeGuern et al, 1996) CMT1, which are still not linked to any loci. The linkage study with D9S1683 excluded the Edg-2 gene in the two families with autosomal recessive CMT1.…”

Section: Discussionmentioning

confidence: 99%

Edg-2 in myelin-forming cells: Isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth disease

Allard

Barrón

Trottier

et al. 1999

Glia

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Edg‐2 is an heptahelical receptor whose spatio‐temporal distribution during rat brain development is consistent with a role in the control of myelination. We have now identified two splice variants of Edg‐2 mRNA in rat brain that encode two receptor isoforms differing by a stretch of 18 amino acids in the NH2‐terminal extracellular tail of the receptor. Prenatally (i.e., before oligodendrocyte myelination), the two variants detected by selective in situ hybridization are equally abundant, vary in parallel, and remain restricted to proliferative zones in the brain. Postnatally, the long isoform becomes predominant in myelinating structures, where its abundance increases sharply during the period of myelination. In the adult human brain, only the long variant was detected, while in situ hybridization showed it selectively expressed in the white matter and in clusters of cells showing features of oligodendrocytes of the temporal cerebral cortex. Consequently, the human Edg‐2 gene was studied to assess its possible contribution in inherited neuropathies. The coding sequence was found to be contained in three exons and to map to chromosome 9q31.3–32 by using radiation hybrid panel and Yeast‐Artificial Chromosomes. Two intragenic bi‐allelic polymorphisms and a rare mutation were identified. As a first application to molecular genetic studies, they were used to exclude the Edg‐2 gene in six families with phenotype of demyelinating Charcot‐Marie‐Tooth disease of unknown origin. GLIA 26:176–185, 1999. © 1999 Wiley‐Liss, Inc.

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“…Patients had a neuropathy with severe distal weakness and wasting from the age of 2 years, with mean motor nerve conduction velocity (NCV) of 29 m/s. Nerve biopsy showed hypomyelination and basal lamina onion bulbs, without Schwann‐cell processes 3, 5. Mutations in a gene encoding ganglioside‐induced differentiation‐associated protein‐1 were found, most recently, in these kindreds 2.…”

Section: Clinical Aspects Of Dejerine–sottas Diseasementioning

confidence: 99%

Dejerine–Sottas disease and hereditary demyelinating polyneuropathy of infancy

Planté‐Bordeneuve

Saïd

2002

Muscle and Nerve

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Dejerine-Sottas disease (DSD) was originally described as a hypertrophic polyneuropathy characterized by onset in infancy or early childhood in patients born to unaffected parents. The clinical features included distal sensory changes with ataxia; pes cavus, at times with kyphoscoliosis; motor deficit and atrophy predominating in the distal lower limbs and progressing toward the proximal limbs following a length-dependent pattern; palpable nerve hypertrophy; and Argyll-Robertson pupils. The morphological hallmark was the extensive nerve and root hypertrophy associated with demyelination-remyelination of surviving, originally myelinated axons and profuse Schwann-cell proliferation forming onion bulbs. Wide variations in clinical manifestations of chronic demyelinating polyneuropathies of early onset in children born to unaffected parents have now been reported, with only some of the characteristics required in the original study, and at least seven genes encoding the myelin proteins P0, PMP22, the transcriptional factor EGR2, and others have been implicated. Thus, DSD is now a component of the hereditary demyelinating polyneuropathies of infancy that also include subsets of the recently individualized CMT4 neuropathies. The presumed recessive transmission of patients with DSD should be confirmed by molecular genetic analysis, which is still negative in a significant proportion of patients. The nerve biopsy can be useful in patients in whom genealogical or DNA abnormalities in favor of a genetic disorder are missing, because in a few patients with a progressive or relapsing course the diagnosis of early-onset chronic inflammatory demyelinating polyneuropathy must be considered.

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Physical and Genetic Mapping of the CMT4A Locus and Exclusion of PMP-2 as the Defect in CMT4A

Cited by 23 publications

References 0 publications

Molecular cytogenetic analysis of consistent abnormalities at 8q12-q22 in breast cancer

Molecular cytogenetic analysis of consistent abnormalities at 8q12-q22 in breast cancer

Edg-2 in myelin-forming cells: Isoforms, genomic mapping, and exclusion in Charcot-Marie-Tooth disease

Dejerine–Sottas disease and hereditary demyelinating polyneuropathy of infancy

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