@article {443,
	title = {Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.},
	journal = {Neuromuscul Disord},
	volume = {27},
	year = {2017},
	month = {2017 Sep},
	pages = {861-872},
	abstract = {<p>Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome. In this study individuals with STIM1 variants were identified by exome sequencing or STIM1 direct sequencing, and assessed for neuromuscular, haematological and biochemical evidence of the allelic disorders of STIM1. STIM1 mutations were investigated by fibroblast calcium imaging and 3D modelling. Six individuals with STIM1 mutations, including two novel mutations (c.262A>G (p.S88G) and c.911G>A (p.R304Q)), were identified. Extra-neuromuscular symptoms including thrombocytopenia, platelet dysfunction, hypocalcaemia or hyposplenism were present in 5/6 patients with mutations in both the EF-hand and CC domains. 3/6 patients had psychiatric disorders, not previously reported in STIM1 disease. Review of published STIM1 patients (n = 49) confirmed that neuromuscular symptoms are present in most patients. We conclude that the phenotype associated with activating STIM1 mutations frequently includes extra-neuromuscular features such as hypocalcaemia, hypo-/asplenia and platelet dysfunction regardless of mutation domain.</p>},
	keywords = {Adult, Blood Platelet Disorders, Calcium, Cell Culture Techniques, DNA Mutational Analysis, Dyslexia, Erythrocytes, Abnormal, Family Health, Female, Fibroblasts, Genetic Association Studies, Humans, Ichthyosis, Magnetic Resonance Imaging, Male, Microscopy, Electron, Middle Aged, Migraine Disorders, Miosis, Models, Molecular, Muscle Fatigue, Muscle, Skeletal, Mutation, Myopathies, Structural, Congenital, NAD, Neoplasm Proteins, Spleen, Stromal Interaction Molecule 1},
	issn = {1873-2364},
	doi = {10.1016/j.nmd.2017.05.002},
	author = {Harris, Elizabeth and Burki, Umar and Marini-Bettolo, Chiara and Neri, Marcella and Scotton, Chiara and Hudson, Judith and Bertoli, Marta and Evangelista, Teresinha and Vroling, Bas and Polvikoski, Tuomo and Roberts, Mark and Topf, Ana and Bushby, Kate and McArthur, Daniel and Lochm{\"u}ller, Hanns and Ferlini, Alessandra and Straub, Volker and Barresi, Rita}
}
@article {399,
	title = {Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.},
	journal = {Br J Dermatol},
	volume = {177},
	year = {2017},
	month = {2017 07},
	pages = {319-322},
	keywords = {Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Heterozygote, Homozygote, Humans, Ichthyosis, Infant, Lipase, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, Young Adult},
	issn = {1365-2133},
	doi = {10.1111/bjd.15570},
	author = {Boyden, L M and Craiglow, B G and Hu, R H and Zhou, J and Browning, J and Eichenfield, L and Lim, Y L and Luu, M and Randolph, L M and Ginarte, M and Fachal, L and Rodriguez-Pazos, L and Vega, A and Kramer, D and Yosipovitch, G and Vahidnezhad, H and Youssefian, L and Uitto, J and Lifton, R P and Paller, A S and Milstone, L M and Choate, K A}
}
@article {187,
	title = {Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.},
	journal = {J Clin Invest},
	volume = {125},
	year = {2015},
	month = {2015 Apr},
	pages = {1703-7},
	abstract = {<p>Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disorder that is characterized by progressive development of hundreds of normal skin spots via revertant mosaicism. Here, we report on a clinical and histological IWC subtype in which affected subjects have red, scaly skin at birth, experience worsening palmoplantar keratoderma in childhood, and develop hundreds of normal skin spots, beginning at around 20 years of age, that increase in size and number over time. We identified a causal de novo mutation in keratin 1 (KRT1). Similar to IWC-causing KRT10 mutations, this mutation in KRT1 resulted in a C-terminal frameshift, replacing 22 C-terminal amino acids with an alternate 30-residue peptide. Mutant KRT1 caused partial collapse of the cytoplasmic intermediate filament network and mislocalized to the nucleus. As with KRT10 mutations causing IWC, reversion of KRT1 mutations occurred via mitotic recombination. Because reversion is not observed with other disease-causing keratin mutations, the results of this study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant mosaicism in IWC. </p>},
	keywords = {Adult, Age of Onset, Amino Acid Sequence, Cell Line, Tumor, Cell Nucleus, Child, Child, Preschool, Chromosomes, Human, Pair 12, Cytoskeleton, Frameshift Mutation, Humans, Ichthyosis, Intermediate Filaments, Keratin-1, Keratinocytes, Loss of Heterozygosity, Male, Molecular Sequence Data, Mosaicism, Phenotype, Polymorphism, Single Nucleotide, Protein Transport, Transfection},
	issn = {1558-8238},
	doi = {10.1172/JCI64415},
	author = {Choate, Keith A and Lu, Yin and Zhou, Jing and Elias, Peter M and Zaidi, Samir and Paller, Amy S and Farhi, Anita and Nelson-Williams, Carol and Crumrine, Debra and Milstone, Leonard M and Lifton, Richard P}
}
