@article {766,
	title = {Expanding the phenotypic spectrum in RDH12-associated retinal disease.},
	journal = {Cold Spring Harb Mol Case Stud},
	volume = {6},
	year = {2020},
	month = {2020 02},
	abstract = {<p>Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein result in photoreceptor death and decreased vision beginning at an early age and progressing to substantial vision loss later in life. Here we describe 11 patients with retinal degeneration that underwent next-generation sequencing (NGS) with a targeted panel of all currently known inherited retinal degeneration (IRD) genes and whole-exome sequencing to identify the genetic causality of their retinal disease. These patients display a range of phenotypic severity prompting clinical diagnoses of macular dystrophy, cone-rod dystrophy, retinitis pigmentosa, and early-onset severe retinal dystrophy all attributed to biallelic recessive mutations in  We report 15 causal alleles and expand the repertoire of known  mutations with four novel variants: c.215A > G (p.Asp72Gly); c.362T > C (p.Ile121Thr); c.440A > C (p.Asn147Thr); and c.697G > A (p.Val233Ille). The broad phenotypic spectrum observed with biallelic  mutations has been observed in other genetic forms of IRDs, but the diversity is particularly notable here given the prior association of  primarily with severe early-onset disease. This breadth emphasizes the importance of broad genetic testing for inherited retinal disorders and extends the pool of individuals who may benefit from imminent gene-targeted therapies.</p>},
	keywords = {Adolescent, Adult, Alcohol Oxidoreductases, Alleles, Amino Acid Substitution, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Humans, Male, Mutation, Optical Imaging, Pedigree, Phenotype, Retinal Diseases, Tomography, Optical Coherence, Whole Exome Sequencing, Young Adult},
	issn = {2373-2873},
	doi = {10.1101/mcs.a004754},
	author = {Scott, Hilary A and Place, Emily M and Ferenchak, Kevin and Zampaglione, Erin and Wagner, Naomi E and Chao, Katherine R and DiTroia, Stephanie P and Navarro-Gomez, Daniel and Mukai, Shizuo and Huckfeldt, Rachel M and Pierce, Eric A and Bujakowska, Kinga M}
}
@article {395,
	title = {Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.},
	journal = {Am J Hum Genet},
	volume = {100},
	year = {2017},
	month = {2017 Jun 01},
	pages = {978-984},
	abstract = {<p>The discovery of new genetic determinants of inherited skin disorders has been instrumental to the understanding of epidermal function, differentiation, and renewal. Here, we show that mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetric erythrokeratoderma spectrum. This disorder is characterized by severe lesions of thick scaly skin on the face and genitals and thickened, red, and scaly skin on the hands and feet. Although exome sequencing revealed several of the KDSR mutations, we employed genome sequencing to discover a pathogenic 346 kb inversion in multiple probands, and cDNA sequencing and a splicing assay established that two mutations, including a recurrent silent third base change, cause exon skipping. Immunohistochemistry and yeast complementation studies demonstrated that the mutations cause defects in KDSR function. Systemic isotretinoin therapy has achieved nearly complete resolution in the two probands in whom it has been applied, consistent with the effects of retinoic acid on alternative pathways for ceramide generation.</p>},
	keywords = {Alcohol Oxidoreductases, Ceramides, Genes, Recessive, Genetic Complementation Test, Genetic Predisposition to Disease, Heterozygote, Humans, Intermediate Filament Proteins, Keratosis, Mutation, Polymorphism, Single Nucleotide, RNA Splicing, Saccharomyces cerevisiae},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2017.05.003},
	author = {Boyden, Lynn M and Vincent, Nicholas G and Zhou, Jing and Hu, Ronghua and Craiglow, Brittany G and Bayliss, Susan J and Rosman, Ilana S and Lucky, Anne W and Diaz, Luis A and Goldsmith, Lowell A and Paller, Amy S and Lifton, Richard P and Baserga, Susan J and Choate, Keith A}
}
