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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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