ArticleJournal of medical genetics2003
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature.Orphanet journal of rare diseases · 2023Pooled it
- Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.Genes & genomics · 2018Article
- New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.The British journal of dermatology · 2014Article
- Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.The Journal of investigative dermatology · 2014Article
- Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.The Journal of investigative dermatology · 2013Article
- Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.Nature genetics · 2012Article
- Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.American journal of human genetics · 2012Article
- Factors affecting statistical power in the detection of genetic association.The Journal of clinical investigation · 2005Review
- Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis.Indian dermatology online journalReview
- Low-Dose Oral Retinoid Combined with Topical Therapy Successfully Treats Punctate Palmoplantar Keratoderma Lesions Misdiagnosed as Corns: A Case Report.Indian journal of dermatologyArticle
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 4 countries.
Funding
Abstract
backgroundThe identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the intermediate filaments, desmosomes, and gap junctions. Among these disorders, there is an extraordinarily heterogeneous group known as palmoplantar keratodermas (PPK), for which only a few molecular defects have been described. A particular form of PPK, known as punctate PPK, has been described in a few large autosomal dominant pedigrees, but its genetic basis has yet to be identified.
aimIdentification of the gene for punctate PPK.
methodsClinical examination and linkage analysis in three families with punctate PPK.
resultsA genomewide scan was performed on an extended autosomal dominant pedigree, and linkage to chromosome 15q22-q24 was identified. With the addition of two new families with the same phenotype, we confirmed the mapping of the locus for punctate PPK to a 9.98 cM interval, flanked by markers D15S534 and D15S818 (maximum two point lod score of 4.93 at theta = 0 for marker D15S988).
conclusionsWe report the clinical and genetic findings in three pedigrees with the punctate form of PPK. We have mapped a genetic locus for this phenotype to chromosome 15q22-q24, which indicates the identification of a new gene involved in skin integrity.
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