Recessive Ichthyosis Congenita Type IV

Niemi, Kirsti‐Maria; Kuokkanen, K; Kanerva, Lasse; Ignatius, Jaakko

doi:10.1097/00000372-199306000-00005

Cited by 42 publications

(31 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This indicates an ancient founder mutation for IPS in the area. IPS has been reported in three families outside Norway and Sweden, of which two are from Finland and one from Italy (Niemi et al 1993;Brusasco et al 1997). We recently reported linkage of IPS to chromosome 9q33.3-34.13 (Klar et al 2004), and a shared ancestral haplotype was expected among a majority of the affected individuals because of the geographical clustering.…”

Section: Introductionmentioning

confidence: 92%

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

et al. 2006

View full text Add to dashboard Cite

Autosomal recessive congenital ichthyosis (ARCI) is a group of keratinisation disorders that includes the ichthyosis prematurity syndrome (IPS). IPS is rare and almost exclusively present in a restricted region in the middle of Norway and Sweden, which indicates a founder effect for the disorder. We recently reported linkage of IPS to chromosome 9q34, and we present here the subsequent fine-mapping of this region with known and novel microsatellite markers as well as single nucleotide polymorphisms (SNPs). Allelic association, evaluated with Fisher's exact test and P excess , was used to refine the IPS haplotype to approximately 1.6 Mb. On the basis of the average length of the haplotype in IPS patients, we calculated the age of a founder mutation to approximately 1,900 years. The IPS haplotype contains a core region of 76 kb consisting of four marker alleles shared by 97.7% of the chromosomes associated with IPS. This region spans four known genes, all of which are expressed in mature epidermal cells. We present the results from the analysis of these four genes and their corresponding transcripts in normal and patient-derived samples.

show abstract

Section: Introductionmentioning

confidence: 92%

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

et al. 2006

View full text Add to dashboard Cite

show abstract

“…160 The ultrastructural features of the so-called EM classification described by the Heidelberg group are based on a glutaraldehyde fixation of the skin biopsy specimen. [206][207][208][209][210] With this technique polygonal clefts in the SC can be observed as an ultrastructural key feature of TGase-1 deficiency, 211 aberrant vesicular structures may indicate NIPAL4 (;ICHTHYIN ) mutations in ARCI, 33 and trilamellar membrane aggregations in the SC and SG (EM type IV) are pathognomonic for ichthyosis prematurity syndrome. 89 Detachment of the SC from the SG with asymmetric cleavage of corneodesmosomes is a specific feature of NS.…”

Section: Use Of Ultrastructural Analysesmentioning

confidence: 99%

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Oji

Tadini

Akiyama

et al. 2010

Journal of the American Academy of Dermatology

684

704

View full text Add to dashboard Cite

“…In electron microscopy the packages of trilaminar membrane structures in upper epidermal and horny cells are typical for this type of ichthyosis and were found in both our patients ( Figure 1d). 15 …”

Section: Ic Type IV Patientsmentioning

confidence: 99%

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

et al. 1999

Self Cite

View full text Add to dashboard Cite

Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited disorders of cornification in which progress has recently been made in the identification of pathogenic mechanisms causing the disease. Transglutaminase 1 (TGM 1) has been found as a defective gene in a large fraction of patients with lamellar ichthyosis (LI), a severe inherited scaling disorder of the skin. We have previously performed molecular genetic studies of 38 Finnish ARCI families and found six different mutations in 13 families of 38 (34%). In this study we compared the molecular genetic alterations with clinical and electron microscopic findings of these patients. Families were classified by electron microscopy in ichthyosis congenita (IC) types I, II, III, IV and a non-defined group. TGM 1 gene mutation was found in all of the IC type II and 1/3 of the IC type 1 families. Although electron microscopy is not always used to classify ARCI patients, it can distinguish groups which are parallel with molecular genetic findings. This finding might be useful in the classification of ARCI patients for further linkage studies. Clinically typical phenotype of the TGM1 mutation carrier includes large, thick, brownish scales, but ichthyosis of some of these patients tends to be milder.

show abstract

Recessive Ichthyosis Congenita Type IV

Cited by 42 publications

References 13 publications

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

Contact Info

Product

Resources

About