Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1
Article Abstract:
Cyclic ichthyosis with epidermolytic hyperkeratosis is a phenotype that results from mutations in the keratin K1 2B domain. Four persons from two families with a unique clinical disorder with histological findings of epidermolytic hyperkeratosis are described. At birth they manifested erythema and superficial erosions. They improved during the next few months and later developed palmoplantar hyperkeratosis with scale and patchy erythema. A clinical phenotype different from classic bullous congential ichthyosiform erythroderma (BCIE), but with similar histology, can be the result of K1 mutations.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
User Contributions:
Comment about this article or add new information about this topic:
A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779
Article Abstract:
The putative sex-determining gene appears to be located on chromosome 9 in the extreme terminal region of the short arm. Cytogenic and molecular analyses of four sex-reversed XY females point to a smallest region of overlap (SRO) of deletions on a very small part of distal band 9p24, distal to marker D9S1779. Seventeen highly polymorphic satellite markers were used in loss-of-heterozygosity studies, in addition to FISH with YAC clones that correspond to the most distal markers on 9p.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3
- Abstracts: Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling
- Abstracts: Rh(sub.mod) syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region
- Abstracts: Use of unlinked genetic markers to detect population stratification in association studies. Quantitative-trait locus for specific language and reading deficits on chromosome 6p
- Abstracts: The transmission/disequilibrium test and parental-genotype reconstruction: the reconstruction-combined transmission/disequilibrium test