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[PMID]: 29362773 [Au] Autor: Abalem MF; Rao PK; Rao RC [Ad] Endereço: Department of Ophthalmology, Faculty of Medicine, University of São Paulo, Brazil. [Ti] Título: Nystagmus and Platinum Hair. [So] Source: JAMA;319(4):399-400, 2018 01 23. [Is] ISSN: 1538-3598 [Cp] País de publicação: United States [La] Idioma: eng [Mh] Termos MeSH primário: Albinismo Oculocutâneo/diagnóstico [Mh] Termos MeSH secundário: Adulto Albinismo Oculocutâneo/complicações Diagnóstico Diferencial Feminino Fundo de Olho Cor de Cabelo Seres Humanos Nistagmo Patológico/etiologia Transtornos da Pigmentação/diagnóstico [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL [Em] Mês de entrada: 1801 [Cu] Atualização por classe: 180131 [Lr] Data última revisão: 180131 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 180125 [St] Status: MEDLINE [do] DOI: 10.1001/jama.2017.20673

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[PMID]: 27775880 [Au] Autor: Dolinska MB; Kus NJ; Farney SK; Wingfield PT; Brooks BP; Sergeev YV [Ad] Endereço: National Eye Institute, National Institutes of Health, Bethesda, MD, USA. [Ti] Título: Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity. [So] Source: Pigment Cell Melanoma Res;30(1):41-52, 2017 Jan. [Is] ISSN: 1755-148X [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity. Here, we characterize the recombinant human tyrosinase intramelanosomal domain and mutant variants, which mimic genetic changes in both subtypes of OCA1 patients. Proteins were prepared using site-directed mutagenesis, expressed in insect larvae, purified by chromatography, and characterized by enzymatic activities, tryptophan fluorescence, and Gibbs free energy changes. The OCA1A mutants showed very low protein expression and protein yield and are enzymatically inactive. Mutants mimicking OCA1B were biochemically similar to the wild type, but exhibited lower specific activities and protein stabilities. The results are consistent with clinical data, which indicates that OCA1A mutations inactivate tyrosinase and result in severe phenotype, while OCA1B mutations partially inactivate tyrosinase and result in OCA1B albinism. [Mh] Termos MeSH primário: Albinismo Oculocutâneo/patologia Monofenol Mono-Oxigenase/genética Monofenol Mono-Oxigenase/metabolismo Mutação/genética Conformação Proteica [Mh] Termos MeSH secundário: Albinismo Oculocutâneo/genética Albinismo Oculocutâneo/metabolismo Catálise Seres Humanos Modelos Moleculares Monofenol Mono-Oxigenase/química Dobramento de Proteína Proteínas Recombinantes/genética Proteínas Recombinantes/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Recombinant Proteins); EC 1.14.18.1 (Monophenol Monooxygenase) [Em] Mês de entrada: 1711 [Cu] Atualização por classe: 171128 [Lr] Data última revisão: 171128 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161025 [St] Status: MEDLINE [do] DOI: 10.1111/pcmr.12546

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[PMID]: 28973042 [Au] Autor: Caduff M; Bauer A; Jagannathan V; Leeb T [Ad] Endereço: Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland. [Ti] Título: OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. [So] Source: PLoS One;12(10):e0185944, 2017. [Is] ISSN: 1932-6203 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Filtering for private variants revealed a single variant with predicted high impact in the critical interval in LOC100855460 (XM_005618224.1:c.377+2T>G LT844587.1:c.-45+2T>G). The variant perfectly co-segregated with the phenotype in the family. We genotyped 181 control dogs with normal pigmentation from diverse breeds including 22 unrelated German Spitz dogs, which were all homozygous wildtype. Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3.1 reference genome assembly is incorrect and separates the first two exons from the remaining exons of the OCA2 gene. We amplified a canine OCA2 cDNA fragment by RT-PCR and determined the correct full-length mRNA sequence (LT844587.1). Variants in the OCA2 gene cause oculocutaneous albinism type 2 (OCA2) in humans, pink-eyed dilution in mice, and similar phenotypes in corn snakes, medaka and Mexican cave tetra fish. We therefore conclude that the observed oculocutaneous albinism in German Spitz is most likely caused by the identified variant in the 5'-splice site of the first intron of the canine OCA2 gene. [Mh] Termos MeSH primário: Albinismo Oculocutâneo/veterinária Doenças do Cão/genética Cães/genética Cor de Olho/genética Genótipo Proteínas de Membrana Transportadoras/genética Processamento de RNA [Mh] Termos MeSH secundário: Albinismo Oculocutâneo/genética Animais Éxons Feminino Masculino Linhagem [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Membrane Transport Proteins) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171019 [Lr] Data última revisão: 171019 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171004 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0185944

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[PMID]: 28829849 [Au] Autor: Huurneman B; Boonstra FN; Goossens J [Ad] Endereço: Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Cognitive Neuroscience Department, Nijmegen, The Netherlands. [Ti] Título: Predictors of Sensitivity to Perceptual Learning in Children With Infantile Nystagmus. [So] Source: Invest Ophthalmol Vis Sci;58(10):4162-4172, 2017 Aug 01. [Is] ISSN: 1552-5783 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Purpose: To identify predictors of sensitivity to perceptual learning on a computerized, near-threshold letter discrimination task in children with infantile nystagmus (idiopathic IN: n = 18; oculocutaneous albinism accompanied by IN: n = 18). Methods: Children were divided into two age-, acuity-, and diagnosis-matched training groups: a crowded (n = 18) and an uncrowded training group (n = 18). Training consisted of 10 sessions spread out over 5 weeks (grand total of 3500 trials). Baseline performance, age, diagnosis, training condition, and perceived pleasantness of training (training joy) were entered as linear regression predictors of training-induced changes on a single- and a crowded-letter task. Results: An impressive 57% of the variability in improvements of single-letter visual acuity was explained by age, training condition, and training joy. Being older and training with uncrowded letters were associated with larger single-letter visual acuity improvements. More training joy was associated with a larger gain from the uncrowded training and a smaller gain from the crowded training. Fifty-six percent of the variability in crowded-letter task improvements was explained by baseline performance, age, diagnosis, and training condition. After regressing out the variability induced by training condition, baseline performance, and age, perceptual learning proved more effective for children with idiopathic IN than for children with albinism accompanied by IN. Training gains increased with poorer baseline performance in idiopaths, but not in children with albinism accompanied by IN. Conclusions: Age and baseline performance, but not training joy, are important prognostic factors for the effect of perceptual learning in children with IN. However, their predictive value for achieving improvements in single-letter acuity and crowded letter acuity, respectively, differs between diagnostic subgroups and training condition. These findings may help with personalized treatment of individuals likely to benefit from perceptual learning. [Mh] Termos MeSH primário: Aprendizagem/fisiologia Nistagmo Congênito/fisiopatologia Reconhecimento Visual de Modelos/fisiologia [Mh] Termos MeSH secundário: Albinismo Oculocutâneo/fisiopatologia Criança Aprendizagem por Discriminação/fisiologia Feminino Seres Humanos Masculino Nistagmo Congênito/reabilitação Análise de Regressão Limiar Sensorial/fisiologia Acuidade Visual [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1708 [Cu] Atualização por classe: 170828 [Lr] Data última revisão: 170828 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170823 [St] Status: MEDLINE [do] DOI: 10.1167/iovs.17-21913

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[PMID]: 28737247 [Au] Autor: Caduff M; Bauer A; Jagannathan V; Leeb T [Ad] Endereço: Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland. [Ti] Título: A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. [So] Source: Anim Genet;48(5):619-621, 2017 Oct. [Is] ISSN: 1365-2052 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous albinism. The affected dog was highly inbred and resulted from the mating of a sire to its own grandmother. We obtained whole genome sequence data from the affected dog and searched specifically for variants in candidate genes known to cause albinism. We detected a single base deletion in exon 6 of the SLC45A2 gene (NM_001037947.1:c.1287delC) that has not been reported thus far. This deletion is predicted to result in an early premature stop codon. It was confirmed by Sanger sequencing and perfectly co-segregated with the phenotype in the available family members. We genotyped 174 unrelated dogs from diverse breeds, all of which were homozygous wildtype. We therefore suggest that SLC45A2:c.1287delC causes the observed oculocutaneous albinism in the affected Bullmastiff. [Mh] Termos MeSH primário: Albinismo Oculocutâneo/veterinária Doenças do Cão/genética Cães/genética Mutação da Fase de Leitura Proteínas de Membrana Transportadoras/genética Deleção de Sequência [Mh] Termos MeSH secundário: Albinismo Oculocutâneo/genética Animais Códon sem Sentido Éxons Masculino Linhagem Fenótipo [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Codon, Nonsense); 0 (Membrane Transport Proteins) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170920 [Lr] Data última revisão: 170920 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170725 [St] Status: MEDLINE [do] DOI: 10.1111/age.12582

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[PMID]: 28396147 [Au] Autor: Aayadi H; Mittal SPK; Deshpande A; Gore M; Ghaskadbi SS [Ad] Endereço: Department of Zoology, Savitribai Phule Pune University, Pune 411007, India. [Ti] Título: Protective effect of geraniin against carbon tetrachloride induced acute hepatotoxicity in Swiss albino mice. [So] Source: Biochem Biophys Res Commun;487(1):62-67, 2017 May 20. [Is] ISSN: 1090-2104 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Geraniin is a hydrolysable tannin, widely present in many plant species, specifically used in traditional medicines. It has been shown to exhibit strong antioxidant activity in vitro. This study was performed to investigate hepatoprotective activity of geraniin against carbon tetrachloride (CCl ) induced damage in Swiss albino mice. Mice were treated with 30 and 60 mg/kg geraniin for 10 days followed by CCl administration for 24 h. Increase in Serum biochemical marker enzymes and histological deteriorative changes of liver tissue after CCl administration were attenuated by geraniin. Geraniin significantly reduced CCl induced lipid peroxidation, increase in amount of glutathione, glutathione reductase and Heme oxygenase-1 (HO-1). On the other hand it inhibited significant reduction in catalase activity and expression caused by CCl administration. Pre-treatment with geraniin reduced phosphorylation of translation initiation factor eIF2α, at serine 51, caused by CCl exposure and reduced elevated expression of its upstream kinase, Heme-regulated Inhibitor (HRI). These results clearly demonstrate hepatoprotective activity of geraniin against CCl -induced acute hepatotoxicity via its free radical scavenging and antioxidant activities. [Mh] Termos MeSH primário: Doença Hepática Induzida por Substâncias e Drogas/metabolismo Doença Hepática Induzida por Substâncias e Drogas/prevenção & controle Glucosídeos/administração & dosagem Heme Oxigenase-1/metabolismo Taninos Hidrolisáveis/administração & dosagem Proteínas de Membrana/metabolismo Proteínas Serina-Treonina Quinases/metabolismo Espécies Reativas de Oxigênio/metabolismo [Mh] Termos MeSH secundário: Albinismo Oculocutâneo Animais Tetracloreto de Carbono Doença Hepática Induzida por Substâncias e Drogas/patologia Relação Dose-Resposta a Droga Feminino Masculino Camundongos Resultado do Tratamento [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Glucosides); 0 (Hydrolyzable Tannins); 0 (Membrane Proteins); 0 (Reactive Oxygen Species); 60976-49-0 (Geraniin); CL2T97X0V0 (Carbon Tetrachloride); EC 1.14.14.18 (Heme Oxygenase-1); EC 1.14.14.18 (Hmox1 protein, mouse); EC 2.7.11.1 (Protein-Serine-Threonine Kinases); EC 2.7.11.1 (eIF2alpha kinase, mouse) [Em] Mês de entrada: 1706 [Cu] Atualização por classe: 170612 [Lr] Data última revisão: 170612 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170412 [St] Status: MEDLINE

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[PMID]: 28298193 [Au] Autor: Tóth L; Fábos B; Farkas K; Sulák A; Tripolszki K; Széll M; Nagy N [Ad] Endereço: Department of Medical Genetics, University of Szeged, 6 Somogyi Bela Street, 6720, Szeged, Hungary. [Ti] Título: Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4. [So] Source: BMC Med Genet;18(1):27, 2017 Mar 15. [Is] ISSN: 1471-2350 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene. This gene encodes a membrane-associated transport protein, which regulates tyrosinase activity and, thus, melanin content by changing melanosomal pH and disrupting the incorporation of copper into tyrosinase. METHODS: Here we report two Hungarian siblings affected by an unusual OCA4 phenotype. After genomic DNA was isolated from peripheral blood of the patients, the coding regions of the SLC45A2 gene were sequenced. In silico tools were applied to identify the functional impact of the newly detected mutations. RESULTS: Direct sequencing of the SLC45A2 gene revealed two novel, heterozygous mutations, one missense (c.1226G > A, p.Gly409Asp) and one nonsense (c.1459C > T, p.Gln437*), which were present in both patients, suggesting the mutations were compound heterozygous. In silico tools suggest that these variations are disease causing mutations. CONCLUSIONS: The newly identified mutations may affect the transmembrane domains of the protein, and could impair transport function, resulting in decreases in both melanosomal pH and tyrosinase activity. Our study provides expands on the mutation spectrum of the SLC45A2 gene and the genetic background of OCA4. [Mh] Termos MeSH primário: Albinismo Oculocutâneo/genética Antígenos de Neoplasias/genética Códon sem Sentido Proteínas de Membrana Transportadoras/genética Mutação de Sentido Incorreto [Mh] Termos MeSH secundário: Adulto Grupo com Ancestrais do Continente Europeu/genética Feminino Seres Humanos Hungria Linhagem Fenótipo Análise de Sequência de DNA/métodos [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Antigens, Neoplasm); 0 (Codon, Nonsense); 0 (Membrane Transport Proteins); 0 (SLC45A2 protein, human) [Em] Mês de entrada: 1705 [Cu] Atualização por classe: 170705 [Lr] Data última revisão: 170705 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170317 [St] Status: MEDLINE [do] DOI: 10.1186/s12881-017-0386-7

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[PMID]: 28192564 [Au] Autor: Oki R; Yamada K; Nakano S; Kimoto K; Yamamoto K; Kondo H; Kubota T [Ad] Endereço: Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan. [Ti] Título: A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. [So] Source: Invest Ophthalmol Vis Sci;58(2):1008-1016, 2017 Feb 01. [Is] ISSN: 1552-5783 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Purpose: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods: A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis. Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). Results: All 16 patients exhibited hypopigmentation of their hair and/or iris. They showed foveal hypoplasia, including 3 patients with grade 1 foveal hypoplasia, 7 with grade 2, and 6 with grade 3. No patient had grade 4 foveal hypoplasia. Optical coherence tomography showed macular ganglion cell complex thinning in the temporal area, and a slight reduction of visual field sensitivity in the centrotemporal area. A maximum multipoint parametric logarithm of the odds (LOD) score of approximately 2.00 to 3.56 was obtained on chromosome 5, spanning approximately 7.2 Mb between rs13187570 and rs395967 that included the SLC45A2 gene. All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4. Conclusions: The present study reports a very rare family with autosomal dominant OCA4 whose diagnosis was confirmed by a mutational analysis. Most family members exhibited mild general hypopigmentation and low-grade foveal hypoplasia. [Mh] Termos MeSH primário: Albinismo Oculocutâneo/genética Antígenos de Neoplasias/genética DNA/genética Fóvea Central/patologia Proteínas de Membrana Transportadoras/genética Mutação Acuidade Visual [Mh] Termos MeSH secundário: Adolescente Adulto Idoso Albinismo Oculocutâneo/diagnóstico Albinismo Oculocutâneo/metabolismo Antígenos de Neoplasias/metabolismo Criança Análise Mutacional de DNA Feminino Genótipo Seres Humanos Japão Masculino Proteínas de Membrana Transportadoras/metabolismo Meia-Idade Linhagem Reação em Cadeia da Polimerase Polimorfismo de Nucleotídeo Único Tomografia de Coerência Óptica Adulto Jovem [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Antigens, Neoplasm); 0 (Membrane Transport Proteins); 0 (SLC45A2 protein, human); 9007-49-2 (DNA) [Em] Mês de entrada: 1706 [Cu] Atualização por classe: 170626 [Lr] Data última revisão: 170626 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170214 [St] Status: MEDLINE [do] DOI: 10.1167/iovs.16-20612

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[PMID]: 28186599 [Au] Autor: Lyu Y; Huang J; Zhang K; Liu G; Gao M; Gai Z; Liu Y [Ad] Endereço: Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. gaizhongtao@sina.com. [Ti] Título: [Diagnosis of a case with oculocutaneous albinism type â…¢ with next generation exome capture sequencing]. [So] Source: Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(1):73-77, 2017 Feb 10. [Is] ISSN: 1003-9406 [Cp] País de publicação: China [La] Idioma: chi [Ab] Resumo: OBJECTIVE: To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism. METHODS: The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated. RESULTS: The child has displayed strabismus, poor vision, nystagmus and brown hair. DNA sequencing showed that the patient has carried compound heterozygous mutations of the TYRP1 gene, namely c.1214C>A (p.T405N) and c.1333dupG, which were inherited from his mother and father, respectively. Neither mutation was reported previously. CONCLUSION: The child has suffered from oculocutaneous albinism type â…¢ caused by mutations of the TYRP1 gene. [Mh] Termos MeSH primário: Albinismo Oculocutâneo/genética Exoma/genética Sequenciamento de Nucleotídeos em Larga Escala/métodos Glicoproteínas de Membrana/genética Mutação Oxirredutases/genética [Mh] Termos MeSH secundário: Albinismo Oculocutâneo/diagnóstico Sequência de Aminoácidos Sequência de Bases Pré-Escolar Saúde da Família Feminino Heterozigoto Seres Humanos Masculino Pais [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Membrane Glycoproteins); EC 1.- (Oxidoreductases); EC 1.14.18.- (TYRP1 protein, human) [Em] Mês de entrada: 1706 [Cu] Atualização por classe: 170629 [Lr] Data última revisão: 170629 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170211 [St] Status: MEDLINE [do] DOI: 10.3760/cma.j.issn.1003-9406.2017.01.017

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[PMID]: 28112372 [Au] Autor: Lu Q; Yuan L; Xu H; Huang X; Yang Z; Yi J; Ni B; Chen Y; Deng H [Ad] Endereço: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China. [Ti] Título: Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. [So] Source: Mol Med Rep;15(3):1426-1430, 2017 Mar. [Is] ISSN: 1791-3004 [Cp] País de publicação: Greece [La] Idioma: eng [Ab] Resumo: Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four­generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co­segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease. [Mh] Termos MeSH primário: Albinismo Oculocutâneo/diagnóstico Albinismo Oculocutâneo/genética Monofenol Mono-Oxigenase/genética Mutação de Sentido Incorreto [Mh] Termos MeSH secundário: Adulto Sequência de Aminoácidos Estudos de Casos e Controles Mapeamento Cromossômico Sequência Conservada Análise Mutacional de DNA Exoma Feminino Genótipo Sequenciamento de Nucleotídeos em Larga Escala Seres Humanos Masculino Meia-Idade Linhagem Fenótipo [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: EC 1.14.18.1 (Monophenol Monooxygenase) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170713 [Lr] Data última revisão: 170713 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170124 [St] Status: MEDLINE [do] DOI: 10.3892/mmr.2017.6137

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