Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutations in KRT14

Article Abstract:

Dominant premature termination codon (PTC) mutations are identified in the E1/V1-encoding region of KRT14 in five families with Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR). These findings demonstrate that NFGS and DPR are allelic diseases, expand the spectrum of such known keratin disorders, and suggest a role for KRT14 during the ontogenesis of sweat glands and dermatoglyphics.

Causes of, Medical examination, Dysplasia, Protein deficiency, Ontogeny, Sweat glands

---

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

Article Abstract:

Homozygosity mapping was performed in five affected families of Jewish Yemenite origin to determine the molecular cause of normophosphatemic familial tumoral calcinosis (NFTC), and NFTC was mapped to chromosome 7q21-7q21.3. Mutation analysis revealed a homozygous, deleterious mutation in the SAMD9 gene (K149SE), which was found to segregate with the disease in all the families and to interfere with the protein expression.

Gene mutations, Gene mutation, Gene expression, Chromosome mapping, Calcinosis

---

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

Article Abstract:

A novel autosomal recessive ichthyosis with hypotrichosis syndrome is described which is characterized by congenital ichthyosis associated with abnormal hair. Mutation analysis has shown a missense mutation, G827R, in the highly conserved peptidase S1-S6 domain and marked skin hyperkeratosis due to impaired degradation of the stratum corneum corneodesmosodmes is found in the affected individuals.

Proteases, Chromosome abnormalities, Serine, Ichthyosis, Report

Similar abstracts:

• Abstracts: Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
• Abstracts: Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Leigh syndrome with nephropathy and Co[Q.sub.10] deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
• Abstracts: C. elegans Kallmann syndrome protein KAL-1 interacts with syndecan and glypican to regulate neuronal cell migrations
• Abstracts: Activin and its receptors during gastrulation and the later phases of mesoderm development in the chick embryo
• Abstracts: Regulation of the Xenopus labial homeodomain genes, HoxA1 and HoxD1: activation by retinoids and peptide growth factors

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.