Lamellar ichthyosis: Further narrowing, physical and expression mapping of the chromosome 2 candidate locus

Parmentier, Laurent; Boughdene-Stambouli, Omar; Lakhdar, H.; Blanchet-Bardon, C; Dubertret, Louis; Clépet, Christian; Wunderle, Edith; Pulcini, Françoise; Fizames, Cécile; Weissenbach, Jean

doi:10.1016/s0923-1811(98)83886-3

Cited by 13 publications

(20 citation statements)

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“…Type 2 LI is a subtype of LI which links to 2q33-35. Clinically, no distinct characteristic features are known for this type of LI [5,7,8]. Mutations in ABCA12 underlie HI and type 2 LI.…”

Section: Abca12 Deficiency In Harlequin Ichthyosis and Lamellar Ichthmentioning

confidence: 99%

“…The underlying genetic defects in ARCI patients, to date, a total of seven loci including candidate genes have been reported as shown in Table 1 [5][6][7][8][9][10][11][12][13]. The genes responsible in 14q11.2, 2q34, 17p13.1 and 5q33 were identified as TGM1 [2,3], ABCA12 [5,14], two lipoxygenase genes, ALOXE3 and ALOX12B [15], and ichthyin [12], respectively (see Table 1).…”

Section: Defective Intercellular Lipid Is the Main Idea Behind The Pamentioning

confidence: 99%

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Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

Akiyama

2006

Journal of Dermatological Science

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“…Type 2 LI is a subtype of LI which links to 2q33-35. Clinically, no distinct characteristic features are known for this type of LI [5,7,8]. Mutations in ABCA12 underlie HI and type 2 LI.…”

Section: Abca12 Deficiency In Harlequin Ichthyosis and Lamellar Ichthmentioning

confidence: 99%

Section: Defective Intercellular Lipid Is the Main Idea Behind The Pamentioning

confidence: 99%

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

Akiyama

2006

Journal of Dermatological Science

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“…One example is ABCA12, mutations in which account for approximately 10% of DOK, and the discovery of which occurred incrementally. In 1996 genome-wide linkage analysis using microsatellite markers mapped a lamellar ichthyosis locus to a region on chromosome 2 (Parmentier et al, 1996), which was later refined to a smaller interval (Parmentier et al, 1999). These findings predated the release of the full human genome sequence, an era when many genes had yet to be identified, including ABCA12, which was characterized several years later (Annilo et al, 2002).…”

Section: Nonepidermolytic Disorders Of Keratinization (Dok)mentioning

confidence: 99%

The Molecular Revolution in Cutaneous Biology: Identification of Skin Disease Genes

Boyden

Choate

2017

Journal of Investigative Dermatology

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“…2). Unfortunately, there are no TGM1 mutational studies in the Arabs' area, except those in Northern Africa due to TGM2 gene on chromosome 2q34, (15,16) though there is a strong observation for an inclusion of ARCI in the Gulf area.…”

Section: Geographical Analysismentioning

confidence: 99%

“…Many affected persons exhibit scarring alopecia and secondary hypohidrosis [24]. Two loci for LI had been mapped: LI1, which is caused by mutations in the TGM1 gene on 14q11 [18] and LI2, which maps to 2q33-q35 [15]. Fischer et al [12] identified 2 additional loci for autosomal recessive ichthyosis.…”

Section: Introductionmentioning

confidence: 99%

Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

Shawky

Sayed²,

Elhawary³

2004

Disease Markers

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Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor mutation recognized by the MspI restriction endonuclease. This promoted to a frequency of 9.6% for this mutation (5 splice-mutation alleles/52 alleles tested). We extended our previous dataset to update the detection of R142H mutation in 4 CIE Egyptian families and one LI phenotype (frequency of 28.8%; 15/52), whereas we still had no R141H among our Egyptian population. There was no correlation between phenotype and genotype in our study. Surprisingly, the mutant alleles detected in intron-5 acceptor splice-site were associated with the other extreme of CIE phenotypes rather than the severe LI form. We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city.

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Lamellar ichthyosis: Further narrowing, physical and expression mapping of the chromosome 2 candidate locus

Cited by 13 publications

References 0 publications

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

The Molecular Revolution in Cutaneous Biology: Identification of Skin Disease Genes

Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

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