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    Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.
    Sci Rep 2017 Feb 17;7:33713. Epub 2017 Feb 17.
    Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
    X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c. Read More

    The effects of topical carbonic anhydrase inhibitor in treatment of nystagmus.
    Int Ophthalmol 2017 Feb 15. Epub 2017 Feb 15.
    Beyoglu Eye Training and Research Hospital, Bereketzade Cami Sokak No:2 Beyoglu, Istanbul, Turkey.
    Objective: To evaluate the effects of topical carbonic anhydrase inhibitor (CAI), brinzolamide (Azopt), for treatment of nystagmus patients.

    Materials And Methods: Patients who used Brinzolamide for treatment of nystagmus were retrospectively analyzed. 23 patients were included in this study. Read More

    A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
    Invest Ophthalmol Vis Sci 2017 Feb;58(2):1008-1016
    Department of Ophthalmology, Oita University Faculty of Medicine, Oita, Japan.
    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. Read More

    [Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Feb;34(1):73-77
    Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
    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. Read More

    The clinical evaluation of infantile nystagmus: What to do first and why.
    Ophthalmic Genet 2017 Jan-Feb;38(1):22-33
    a Department of Ophthalmology and Visual Sciences, Wynn Institute for Vision Research , Roy J. and Lucille A. Carver College of Medicine, University of Iowa , Iowa City , Iowa , USA.
    Introduction: Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm.

    Methods: Retrospective chart review. Read More

    Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis).
    PLoS One 2017 7;12(2):e0171449. Epub 2017 Feb 7.
    Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
    Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain white as the whale ages. Grey morphs (previously referred to as partial albinos) appear mostly white at birth, with a splattering of rounded black marks; but as the whales age, the white skin gradually changes to a brownish grey color. Read More

    Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
    Sci Rep 2017 Feb 1;7:41308. Epub 2017 Feb 1.
    Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. Read More

    Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.
    Doc Ophthalmol 2017 Jan 31. Epub 2017 Jan 31.
    Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave., Boston, MA, 02115-5737, USA.
    Purpose: We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in infancy with ocular features of albinism and gradually developed choroidal sclerosis and patchy retinal atrophy leading to a diagnosis of Knobloch syndrome (KS, OMIM 267750, COL18A1).

    Methods: At age 2 months, nystagmus and esotropia prompted ophthalmic evaluation. The appearance of choroidal sclerosis and atrophic retinal patches led to further evaluation at age 8 years. Read More

    Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype.
    ACG Case Rep J 2017 18;4:e14. Epub 2017 Jan 18.
    Inflammatory Bowel Disease Center, University of Chicago Medicine, Chicago, IL.
    Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn's disease. We present two cases of HPS-associated Crohn's disease phenotype in which the patients were refractory to standard medical management. Read More

    Identification and Characterization of a Plastidic Adenine Nucleotide Uniporter (OsBT1-3) Required for Chloroplast Development in the Early Leaf Stage of Rice.
    Sci Rep 2017 Jan 30;7:41355. Epub 2017 Jan 30.
    State Key Laboratory of Hybrid Rice, Key Laboratory for Research and Utilization of Heterosis in Indica Rice, Ministry of Agriculture, the Yangtze River Valley Hybrid Rice Collaboration Innovation Center, College of Life Sciences, Wuhan University, Wuhan 430072, R. P. China.
    Chloroplast development is an important subject in botany. In this study, a rice (Oryza sativa) mutant exhibiting impairment in early chloroplast development (seedling leaf albino (sla)) was isolated from a filial generation via hybridization breeding. The sla mutant seedlings have an aberrant form of chloroplasts, which resulted in albinism at the first and second leaves; however, the leaf sheath was green. Read More

    Two types of albino mutants in desert and migratory locusts are caused by gene defects in the same signaling pathway.
    Gene 2017 Apr 21;608:41-48. Epub 2017 Jan 21.
    National Agriculture and Food Research Organization, Institute of Agrobiological Sciences, 1-2 Ohwashi, Tsukuba, Ibaraki 305-8634, Japan.
    Albinism is caused by mutations in the genes involved in melanin production. Albino nymphs of Locusta migratoria and Schistocerca gregaria reared under crowded conditions are uniformly creamy-white in color. However, nothing is known about the molecular mechanisms underlying this phenomenon in locusts. Read More

    Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.
    Mol Med Rep 2017 Mar 23;15(3):1426-1430. Epub 2017 Jan 23.
    Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China.
    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 four‑generation consanguineous Chinese Han family. Read More

    Identification of nuclear genes controlling chlorophyll synthesis in barley by RNA-seq.
    BMC Plant Biol 2016 Nov 16;16(Suppl 3):245. Epub 2016 Nov 16.
    Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia.
    Background: Albinism in plants is characterized by lack of chlorophyll and results in photosynthesis impairment, abnormal plant development and premature death. These abnormalities are frequently encountered in interspecific crosses and tissue culture experiments. Analysis of albino mutant phenotypes with full or partial chlorophyll deficiency can shed light on genetic determinants and molecular mechanisms of albinism. Read More

    Blood serum retinol levels in Asinara white donkeys reflect albinism-induced metabolic adaptation to photoperiod at Mediterranean latitudes.
    Ecol Evol 2017 Jan 20;7(1):390-398. Epub 2016 Dec 20.
    Department of Agricultural Sciences University of Sassari Sassari Italy.
    Previous works on albinism form of Asinara white donkeys (Equus asinus) identified the mutation leading to the peculiar phenotype spread to all specimens of the breed. Inbreeding naturally occurred under geographic isolation, on Asinara Island, in the Mediterranean Sea. Albino individuals can be more susceptible to develop health problems when exposed to natural sun radiation. Read More

    The relationship of nystagmus waveform on the VEP response in infantile nystagmus syndrome: a small case series.
    Doc Ophthalmol 2017 Feb 5;134(1):37-44. Epub 2017 Jan 5.
    Division of Ophthalmology, Roger H. Johnson Vision Lab, Seattle Children's Hospital, OA.5.345, 4800 Sand Point Way NE, W-4753, Seattle, WA, 98105, USA.
    Purpose: The relationship between eye movements and the visual evoked potential (VEP) response was examined in two subjects with infantile nystagmus syndrome (INS). Changes in VEP amplitude were compared between periods of foveation versus periods of high-frequency nystagmus. An analysis is proposed that improves extraction of the checkerboard reversal VEP signal from subjects with INS. Read More

    Generation of human embryonic stem cells from abnormal blastocyst diagnosed with albinism.
    Stem Cell Res 2016 Nov 10;17(3):643-645. Epub 2016 Nov 10.
    Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cell, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China. Electronic address:
    Human embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p. Read More

    Advances in clinical immunology in 2015.
    J Allergy Clin Immunol 2016 Dec;138(6):1531-1540
    Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Tex.
    Advances in clinical immunology in the past year included the report of practice parameters for the diagnosis and management of primary immunodeficiencies to guide the clinician in the approach to these relatively uncommon disorders. We have learned of new gene defects causing immunodeficiency and of new phenotypes expanding the spectrum of conditions caused by genetic mutations such as a specific regulator of telomere elongation (RTEL1) mutation causing isolated natural killer cell deficiency and mutations in ras-associated RAB (RAB27) resulting in immunodeficiency without albinism. Advances in diagnosis included the increasing use of whole-exome sequencing to identify gene defects and the measurement of serum free light chains to identify secondary hypogammaglobulinemias. Read More

    A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
    Pediatr Blood Cancer 2016 Dec 4. Epub 2016 Dec 4.
    Institute of Experimental Biomedicine I, University Hospital Würzburg, Germany.
    Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by oculocutaneous albinism and platelet dysfunction. We report on a novel HPS6 homozygous frameshift variant (c.1919_1920delTC; p. Read More

    Amelanotic naevoid melanoma in a 16-month-old albino infant.
    Clin Exp Dermatol 2017 Jan 2;42(1):84-88. Epub 2016 Dec 2.
    Department of Dermatology, Hospital Fundación Jiménez Diaz, Madrid, Spain.
    Melanoma in individuals with oculocutaneous albinism has been reported in the literature to be rare compared with the more common occurrence of squamous cell carcinoma and basal cell carcinoma. We present a singular case of amelanotic naevoid melanoma arising from a small congenital naevus in a 16-month old albino boy, the youngest reported to date. Read More

    Retinal axon guidance at the midline: Chiasmatic misrouting and consequences.
    Dev Neurobiol 2016 Dec 1. Epub 2016 Dec 1.
    Institut National de la Santé et de la Recherche Médicale, UMR-S 839, Paris, 75005, France.
    The visual representation of the outside world relies on the appropriate connectivity between the eyes and the brain. Retinal ganglion cells are the sole neurons that send an axon from the retina to the brain, and thus the guidance decisions of retinal axons en route to their targets in the brain shape the neural circuitry that forms the basis of vision. Here, we focus on the choice made by retinal axons to cross or avoid the midline at the optic chiasm. Read More

    Optical coherence tomography angiography of foveal hypoplasia.
    Br J Ophthalmol 2016 Nov 29. Epub 2016 Nov 29.
    Department of Medical Retina, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
    Aims: To discuss foveal development in the context of detailed retinal vasculature imaging in foveal hypoplasia using optical coherence tomography angiography.

    Methods: In this case series, the optical coherence tomography angiography results of four patients with idiopathic foveal hypoplasia and two patients with foveal hypoplasia secondary to oculocutaneous albinism are presented.

    Results: Cases with intact visual acuity demonstrated lower grades of foveal hypoplasia on optical coherence tomography, while those with poor vision demonstrated high grades of foveal hypoplasia. Read More

    Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
    Am J Hum Genet 2016 Dec 23;99(6):1388-1394. Epub 2016 Nov 23.
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA; Children's National Medical Center, Washington, DC 20010, USA. Electronic address:
    Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations. Read More

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
    Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.
    Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:
    Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing. The targeted sequencing of AP3B2 in 86 unrelated individuals with EOEE led to the identification of an additional family. Read More

    Evaluating outer segment length as a surrogate measure of peak foveal cone density.
    Vision Res 2017 Jan 2;130:57-66. Epub 2016 Dec 2.
    Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA; Department of Ophthalmology, Medical College of Wisconsin, 925 N. 87th Street, Milwaukee, WI 53226, USA; Department of Biomedical Engineering, Marquette University, 1250 W Wisconsin Avenue, Milwaukee, WI 53233, USA; Department of Biophysics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA. Electronic address:
    Adaptive optics (AO) imaging tools enable direct visualization of the cone photoreceptor mosaic, which facilitates quantitative measurements such as cone density. However, in many individuals, low image quality or excessive eye movements precludes making such measures. As foveal cone specialization is associated with both increased density and outer segment (OS) elongation, we sought to examine whether OS length could be used as a surrogate measure of foveal cone density. Read More

    Storage pool diseases illuminate platelet dense granule biogenesis.
    Platelets 2016 Nov 16:1-9. Epub 2016 Nov 16.
    a Department of Biochemistry and Molecular Biology , Colorado State University , Fort Collins , Colorado , USA.
    Platelet dense granules (DGs) are membrane bound compartments that store polyphosphate and small molecules such as ADP, ATP, Ca(2+), and serotonin. The release of DG contents plays a central role in platelet aggregation to form a hemostatic plug. Accordingly, congenital deficiencies in the biogenesis of platelet DGs underlie human genetic disorders that cause storage pool disease and manifest with prolonged bleeding. Read More

    [Ophthalmological rehabilitation of visually impaired children].
    Ophthalmologe 2016 Nov 10. Epub 2016 Nov 10.
    Sehbehindertenambulanz, Universitätsaugenklinik Tübingen, Elfriede-Aulhorn-Str. 7, 72076, Tübingen, Deutschland.
    Background: There are very few studies on visually impaired children in Germany; therefore, the aim of this study was to investigate the current spectrum of diseases of visually impaired children and the care of these children in schools and kindergartens with aids and integrative support.

    Patients And Methods: In a retrospective study all children (n =303) who attended the outpatient department for the visually impaired of the University Eye Hospital Tübingen in 2013 and 2014 were evaluated. The target values were ophthalmological diagnosis, best corrected visual acuity, needs for magnification, prescribed aids, measures for early support and integrative care and inclusion during schooltime. Read More

    Hermansky-Pudlak syndrome in pregnancy: A case report.
    Obstet Med 2016 Dec 5;9(4):171-173. Epub 2016 Aug 5.
    Division of Women's and Children's Health, Leeds Teaching Hospitals, NHS Trust, Leeds, UK.
    Hermansky-Pudlak syndrome is a rare autosomal recessive disorder estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Clinically, it presents as oculocutaneous albinism combined with bleeding diathesis. This is due to the absence of dense bodies in platelets causing a delayed secondary response resulting in prolonged bleeding time despite normal platelet count and coagulation factors. Read More

    Mutation analysis of a Chinese family with oculocutaneous albinism.
    Oncotarget 2016 Dec;7(51):84981-84988
    Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
    Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, we report a Chinese family with two members affected by OCA. Read More

    Innate Color Preference of Zebrafish and Its Use in Behavioral Analyses.
    Mol Cells 2016 Oct 31;39(10):750-755. Epub 2016 Oct 31.
    Department of Biology, Chungnam National University, Daejeon 34134, Korea.
    Although innate color preference of motile organisms may provide clues to behavioral biases, it has remained a longstanding question. In this study, we investigated innate color preference of zebrafish larvae. A cross maze with different color sleeves around each arm was used for the color preference test (R; red, G; green, B; blue, Y; yellow). Read More

    A cross-sectional examination of visual acuity by specific type of albinism.
    J AAPOS 2016 Oct 16;20(5):419-424. Epub 2016 Sep 16.
    Department of Ophthalmology and Visual Neurosciences, Medical School, University of Minnesota, Minneapolis, Minnesota; Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota. Electronic address:
    Purpose: Reports of best-corrected visual acuity (BCVA) in albinism are often based on overlapping clinical phenotypes. BCVA in albinism has been shown to improve with age. This study reports a large cross-sectional investigation to determine whether BCVA differs by specific type of albinism when age-corrected. Read More

    Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism.
    Eur J Dermatol 2016 Oct;26(5):496-498
    Department of Biopathology, University Hospital, 80 av Augustin Fliche, 34295 Montpellier Cedex 5,, Tumorotheque of Biopathology, University Hospital, 80 av Augustin Fliche, 34295, Montpellier Cedex 5, France.

    Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
    Mol Genet Metab 2016 Nov 3;119(3):284-287. Epub 2016 Sep 3.
    Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA. Electronic address:
    Purpose: Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a Caucasian man with hemophilia B and oculocutaneous albinism. Read More

    Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a caucasian family.
    Oncotarget 2016 Oct 20. Epub 2016 Oct 20.
    IRCCS Istituto Tumori "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
    Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology. Read More

    Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.
    Pigment Cell Melanoma Res 2017 Jan;30(1):41-52
    National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
    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. Read More

    [Handheld Optical Coherence Tomography in Paediatric Ophthalmology: Experience of the Department of Ophthalmology in Giessen].
    Klin Monbl Augenheilkd 2016 Oct 13;233(10):1142-1148. Epub 2016 Sep 13.
    Justus-Liebig-Universität Gießen.
    Introduction: Optical coherence tomography is an important tool for the imaging and analysis of retinal structures. The usability of conventional table-top devices is limited in children. We report on our experiences with a handheld Spectral Domain Optical Coherence Tomography (HH-SD-OCT, Bioptigen™) in infants and young children in our daily practice. Read More

    NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
    Pigment Cell Melanoma Res 2016 Nov 19;29(6):702-706. Epub 2016 Oct 19.
    Center for Medical Genetics, Beijing Childrens Hospital, Capital Medical University, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing, China.
    Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome-related organelles. Ten HPS subtypes have been identified with mutations in HPS1 to HPS10. Only four patients with HPS-1 have been reported in Chinese population. Read More

    Clinical evaluation and molecular screening of a large consecutive series of albino patients.
    J Hum Genet 2017 Feb 13;62(2):277-290. Epub 2016 Oct 13.
    Pediatric Ophthalmology Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.
    Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). Our purpose was to detect mutations and genetic frequencies of the main causative genes, offering to albino patients an exhaustive diagnostic assessment within a multidisciplinary approach including ophthalmological, dermatological, audiological and genetic evaluations. Read More

    South African congenital disorders data, 2006 - 2014.
    S Afr Med J 2016 Sep 5;106(10):992-995. Epub 2016 Sep 5.
    School of Clinical Medicine, College of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.
    Background: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date.

    Objectives: To ascertain the effectiveness of the current national CD surveillance system and its implementation. Read More

    Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.
    J Invest Dermatol 2017 Feb 6;137(2):457-465. Epub 2016 Oct 6.
    Ronald O. Perelman, Department of Dermatology, New York University School of Medicine, New York, New York, USA. Electronic address:
    Developmental eye defects in X-linked ocular albinism type 1 are caused by G-protein coupled receptor 143 (GPR143) mutations. Mutations result in dysfunctional melanosome biogenesis and macromelanosome formation in pigment cells, including melanocytes and retinal pigment epithelium. GPR143, primarily expressed in pigment cells, localizes exclusively to endolysosomal and melanosomal membranes unlike most G protein-coupled receptors, which localize to the plasma membrane. Read More

    Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing.
    Genet Mol Res 2016 Sep 19;15(3). Epub 2016 Sep 19.
    Women Health Center of Pingxiang, Pingxiang, Jiangxi, China.
    Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genetic variants, including 19 known single nucleotide polymorphisms, one novel missense mutation (c. Read More

    Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes.
    Int J Mol Sci 2016 Sep 27;17(10). Epub 2016 Sep 27.
    College of Animal Science and Veterinary Medicine, Shanxi Agricultural University, Jinzhong 030600, China.
    To investigate whether ocular albinism type 1 (OA1) is differentially expressed in the skin of mice with different coat colors and to determine its correlation with coat color establishment in mouse, the expression patterns and tissue distribution characterization of OA1 in the skin of mice with different coat colors were qualitatively and quantitatively analyzed by real-time quantitative PCR (qRT-PCR), immunofluorescence staining and Western blot. The qRT-PCR analysis revealed that OA1 mRNA was expressed in all mice skin samples tested, with the highest expression level in brown skin, a moderate expression level in black skin and the lowest expression level in gray skin. Positive OA1 protein bands were also detected in all skin samples by Western blot analysis. Read More

    Retin Cases Brief Rep 2016 Sep 28. Epub 2016 Sep 28.
    Department of Ophthalmology, Virgen del Rocio University Hospital, Seville, Spain.
    Purpose: To describe the clinical presentations and image findings of a patient with foveal hypoplasia.

    Methods: Observational case report of one patient. The clinical presentation of the patient was documented by fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography. Read More

    Altered whole-brain connectivity in albinism.
    Hum Brain Mapp 2017 Feb 29;38(2):740-752. Epub 2016 Sep 29.
    Radiological Sciences, Division of Clinical Neuroscience, University of Nottingham, Room W/B 1441, Queen's Medical Centre, Derby Road, Nottingham, NG7 2UH, United Kingdom.
    Albinism is a group of congenital disorders of the melanin synthesis pathway. Multiple ocular, white matter and cortical abnormalities occur in albinism, including a greater decussation of nerve fibres at the optic chiasm, foveal hypoplasia and nystagmus. Despite this, visual perception is largely preserved. Read More

    Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.
    Muscle Nerve 2016 Sep 26. Epub 2016 Sep 26.
    Department of Neurology, School of Medical Sciences, University of Campinas - UNICAMP, Rua Tessália Vieira de Camargo,126. Cidade Universitaria "Zeferino Vaz", Campinas, SP, Brazil.
    Introduction: Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations.

    Methods: We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune-mediated demyelinating neuropathy as the main clinical feature of CHS. Read More

    Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
    Neurobiol Aging 2016 Dec 28;48:222.e1-222.e7. Epub 2016 Jul 28.
    Department of Clinical Neuroscience, UCL Institute of Neurology, London, United Kingdom. Electronic address:
    A shared genetic susceptibility between cutaneous malignant melanoma (CMM) and Parkinson's disease (PD) has been suggested. We investigated this by assessing the contribution of rare variants in genes involved in CMM to PD risk. We studied rare variation across 29 CMM risk genes using high-quality genotype data in 6875 PD cases and 6065 controls and sought to replicate findings using whole-exome sequencing data from a second independent cohort totaling 1255 PD cases and 473 controls. Read More

    GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.
    PLoS One 2016 8;11(9):e0162273. Epub 2016 Sep 8.
    Stein Eye Institute and Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, United States of America.
    Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE). This disorder is characterized by both RPE macro-melanosomes and abnormal decussation of ganglion cell axons at the brain's optic chiasm. We demonstrated previously that Oa1 specifically activates Gαi3, which also signals in the Oa1 transduction pathway that regulates melanosomal biogenesis. Read More

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