Genetic linkage evaluation of twenty-four loci in an eastern Canadian family segregating Darier's disease (keratosis follicularis)

Sidenberg, Deborah Gayle; Berg, Daniel; Bassett, Anne S.; King, Nicole; Petronis, Artūras; Kamble, A.B.; Kennedy, James L.

doi:10.1016/s0190-9622(94)70130-x

Cited by 7 publications

(2 citation statements)

References 21 publications

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“…Such a search would supplement a continuing investigation of the Usher's Type 1 locus on chromosome lq32 as a candidate in schizophrenia [Sharp et al, 19941. Skin diseases, psychiatric abnormalities, and the retinoids. There are occasional reports of Darier's disease, a severe skin affliction, co-occuring in families with schizophrenia [Sidenberg et al, 1994;Thiers et al, 1968;Getzler and Flint, 19661. A Darier's disease variant which maps to chromosome 12q23324.1, near the aldehyde dehydrogenase 2 locus, segregates with major affective psychosis, including schizoaffective disorder [Craddock et al, 19931.…”

Section: Disease Gene Mutation Vs Disease Gene Retinoid Regulationmentioning

confidence: 99%

Chromosomal locations and modes of action of genes of the retinoid (vitamin A) system support their involvement in the etiology of schizophrenia

Goodman

1995

Am. J. Med. Genet.

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Vitamin A (retinoid), an essential nutrient for fetal and subsequent mammalian development, is involved in gene expression, cell differentiation, proliferation, migration, and death. Retinoic acid (RA) the morphogenic derivative of vitamin A is highly teratogenic. In humans retinoid excess or deficit can result in brain anomalies and psychosis. This review discusses chromosomal loci of genes that control the retinoid cascade in relation to some candidate genes in schizophrenia. The paper relates the knowledge about the transport, delivery, and action of retinoids to what is presently known about the pathology of schizophrenia, with particular reference to the dopamine hypothesis, neurotransmitters, the glutamate hypothesis, retinitis pigmentosa, dermatologic disorders, and craniofacial anomalies.

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Section: Disease Gene Mutation Vs Disease Gene Retinoid Regulationmentioning

confidence: 99%

Chromosomal locations and modes of action of genes of the retinoid (vitamin A) system support their involvement in the etiology of schizophrenia

Goodman

1995

Am. J. Med. Genet.

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“…The presence of epilepsy or salivary gland abnormalities in certain families [Burge and Wilkinson, 19921 and the variable presence of neuropsychiatric abnormalities have suggested the possibility of heterogeneity [Munro, 19921, allelic heterogeneity, or pleiotropic effects. Candidate genes for linkage analysis of Darier disease have included the keratin genes on chromosomes 12 and 17 as well as various desmosomal proteins with known chromosomal locations [Arnemann et al, 19911. However, markers tested from candidate regions including these genes have not been reported to show linkage to Darier disease [Bashir et al, 1993;Sidenberg et al, 1994;Goldsmith et al, 19931. Recently, Craddock et al [19931 and Bashir et al [ 19931 have reported evidence of linkage between markers on chromosome 12q and Darier disease. The families evaluated in both studies were limited to the British population.…”

Section: Introductionmentioning

confidence: 99%

Genetic linkage for Darier disease (keratosis follicularis)

et al. 1995

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Darier disease is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion. Recent data have provided evidence for linkage of the Darier disease locus to 12q23-24.1 in British families. We have carried out linkage analysis using the 12q markers D12S58, D12S84, D12S79, D12S86, PLA2, and D12S63 in 6 Canadian families. Pairwise linkage analysis generated positive lod scores at all 6 markers at various recombination fractions, and each family showed positive lod scores with more than one marker. The peak lod score in the multipoint analysis (Zmax) was 5.5 in the interval between markers D12S58 and D12S84. These positive lod scores in North American families of varied European ancestry confirm the location of the Darier disease gene, and suggest genetic homogeneity. The future identification and sequencing of the gene responsible for Darier disease should lead to improved understanding of the disease and of keratinocyte adhesion in general.

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Disorders of Keratinization

Judge¹,

McLean²,

Munro³

2004

Rook's Textbook of Dermatology

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Genetic linkage evaluation of twenty-four loci in an eastern Canadian family segregating Darier's disease (keratosis follicularis)

Abstract: Linkage analysis can lead to localization of the gene causing Darier's disease. In these preliminary studies low positive lod scores were obtained, potentially pointing to the chromosomal location of the Darier's disease gene.

Cited by 7 publications

References 21 publications

Chromosomal locations and modes of action of genes of the retinoid (vitamin A) system support their involvement in the etiology of schizophrenia

Chromosomal locations and modes of action of genes of the retinoid (vitamin A) system support their involvement in the etiology of schizophrenia

Genetic linkage for Darier disease (keratosis follicularis)

Disorders of Keratinization

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