ArticleAmerican journal of human genetics2000
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 53 citations in OpenAlex.
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- KEAP1-mutant atypical meningioma: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Identification andMedicina (Kaunas, Lithuania) · 2023Article
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.BMC medical genomics · 2022Article
- Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.American journal of human genetics · 2009Article
- Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Human mutation · 2009Review
- Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.American journal of human genetics · 2007Article
- A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.Journal of human genetics · 2006Article
- A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.Neurogenetics · 2004Article
- Novel splice site CACNA1A mutation causing episodic ataxia type 2.Neurogenetics · 2004Article
- Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.The Journal of investigative dermatology · 2002Article
- Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1.The Journal of clinical investigation · 2002Article
- Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.American journal of human genetics · 2001Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with an unidentified gene) have been shown to be associated with a lamellar, nonerythrodermic type of ARCI. We performed a genomewide scan, with 370 highly polymorphic microsatellite markers, on five affected individuals from one large Finnish family with nonerythrodermic, nonlamellar ARCI. The only evidence for linkage emerged from markers in a 6.0-cM region on chromosome 19p13.1-2. The maximum two-point LOD score of 7.33 was obtained with the locus D19S252, and multipoint likelihood calculations gave a maximum location score of 5.2. The affected individuals share two common core haplotypes, which makes compound heterozygosity possible. The novel disease locus is the third locus linked to ARCI, supporting previous evidence for genetic heterogeneity of ARCI. This is also the first locus for a nonlamellar, nonerythrodermic phenotype of ARCI.
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