Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population

Howard, Heidi; Dubé, Marie‐Pierre; Prévost, Claude; Bouchard, Jean‐Pierre; Mathieu, Jean; Rouleau, Guy A.

doi:10.1038/sj.ejhg.5200815

Cited by 14 publications

(9 citation statements)

References 20 publications

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“…Figure 2 shows the pedigrees of these families and haplotypes for the eight markers spanning the candidate interval on chromosome 15q13-15. This identifies a 19.8-cM region encompassing the SPG11 interval reported by Martínez Murillo et al and the AS region 5,9 and partially overlapping the minimal chromosomal region as defined in Japanese HSP-TCC families 10 (see figure 1). In the other nonconsanguineous families, affected siblings shared identical haplotypes within the 15q13-15 region.…”

mentioning

confidence: 53%

“…The SPG11 region spans 10.2 cM and overlaps by 4.3 cM the locus responsible for Andermann's syndrome (AS, [MIM #218000]), a neurologic condition with peripheral neuropathy and agenesis of the corpus callosum. 9 We report clinical and genetic studies of 12 Italian families with HSP-TCC. 10 The HSP-TCC interval identified spans 19.9 cM and overlaps by 4.6 cM the SPG11 region but not the AS locus (figure 1).…”

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confidence: 99%

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Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Casali¹,

Valente²,

Bertini³

et al. 2004

Neurology

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confidence: 53%

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confidence: 99%

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Casali¹,

Valente²,

Bertini³

et al. 2004

Neurology

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“…SLC12A6 is involved in cell proliferation processes (Shen et al, 2004) and mutations of this gene cause a severe neurological disorder frequently associated with psychosis (Filteau et al, 1991;Howard et al, 2002aHoward et al, , b, 2003. The involvement of this gene in psychopathology supports the developmental hypothesis of psychoses (Isohanni et al, 2001;Jones et al, 1994;Weinberger, 1995) ,which suggests that subtle malfunction of axon guidance processes in the developing brain may lead to cognitive and behavioral impairment.…”

Section: Discussionmentioning

confidence: 99%

Functional Analysis of a Potassium-Chloride Co-Transporter 3 (SLC12A6) Promoter Polymorphism Leading to an Additional DNA Methylation Site

Moser

Ekawardhani

Kumsta

et al. 2008

Neuropsychopharmacol

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The human potassium-chloride co-transporter 3 (KCC3, SLC12A6) is involved in cell proliferation and in electro-neutral movement of ions across the cell membrane. The gene (SLC12A6) is located on chromosome 15q14, a region that has previously shown linkage with bipolar disorder, schizophrenia, rolandic epilepsy, idiopathic generalized epilepsy, autism and attention deficit/hyperactivity disorder. Furthermore, recessively inherited mutations of SLC12A6 cause Andermann syndrome, characterized by agenesis of the corpus callosum, which is associated with peripheral neuropathy and psychoses. Recently, we have demonstrated the association of two G/A promoter polymorphisms of SLC12A6 with bipolar disorder in a case-control study, and familial segregation of the rare variants as well as a trend toward association with schizophrenia. To investigate functional consequences of these polymorphisms, lymphocyte DNA was extracted, bisulfite modified, and subsequently sequenced. To investigate SLC12A6 promoter activity, various promoter constructs were generated and analyzed by luciferase reporter gene assays. We provide evidence that the G-allele showed a significant reduction of reporter gene expression. In human lymphocytes, the allele harboring the rare upstream G nucleotide was found to be methylated at the adjacent C position, possibly accountable for tissue-specific reduction in gene expression in vivo. Here we demonstrate functionality of an SNP associated with psychiatric disease and our results may represent a functional link between genetic variation and an epigenetic modification.

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“…The incidence at birth was calculated to be 1/2117 in SLSJ and carrier rate in the Saguenay as 1/23 (33). Identification of linkage disequilibrium at 15q11-q13 (34) and a founder haplotype (35) led to the discovery of the causal gene, SLC12A6, encoding the potassium chloride transporter KCC3. Two mutations have been found in French Canadians, 2436delG (161/162 alleles) and 1584-1585delCTinsG (36).…”

Section: Diseases With Markedly Increased Incidence In French Canadiansmentioning

confidence: 99%

Population history and its impact on medical genetics in Quebec

et al. 2005

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Knowledge of the genetic demography of Quebec is useful for gene mapping, diagnosis, treatment, community genetics and public health. The French-Canadian population of Quebec, currently about 6 million people, descends from about 8500 French settlers who arrived in Nouvelle-France between 1608 and 1759. The migrations of those settlers and their descendants led to a series of regional founder effects, reflected in the geographical distribution of genetic diseases in Quebec. This review describes elements of population history and clinical genetics pertinent to the treatment of French Canadians and other population groups from Quebec and summarizes the cardinal features of over 30 conditions reported in French Canadians. Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and peripheral neuropathy (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111). Other conditions are particularly frequent or have special genetic characteristics in French Canadians, including oculopharyngeal muscular dystrophy, hepatorenal tyrosinaemia, cystic fibrosis, Leber hereditary optic neuropathy and familial hypercholesterolaemia. Three genetic diseases of Quebec First Nations children are also discussed: Cree encephalitis (MIM 608505), Cree leukoencephalopathy (MIM 603896) and North American Indian childhood cirrhosis (MIM 604901).

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Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population

Cited by 14 publications

References 20 publications

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Functional Analysis of a Potassium-Chloride Co-Transporter 3 (SLC12A6) Promoter Polymorphism Leading to an Additional DNA Methylation Site

Population history and its impact on medical genetics in Quebec

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