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CarrierScreeningGeneandDiseaseList Gene Disease Inheritance Gene Disease Inheritance GRACILEsyndrome;Bjornstadsyndrome;Leigh AAAS Achalasia-addisonianism-alacrimasyndrome AR BCS1L syndrome;MitochondrialcomplexIIIdeficiency, AR nucleartype1 Progressivefamilialintrahepaticcholestasis,type ABCB11 AR BLM Bloomsyndrome AR II ABCC6 Pseudoxanthomaelasticum AR BSND Barttersyndrome,typeIV AR ABCC8 Familialhyperinsulinemichypoglycemiatype1 AR BTD Biotinidasedeficiency AR Desbuquoisdysplasia,typeI;Epiphyseal ABCD1 Adrenoleukodystrophy(X-linked) XL CANT1 AR dysplasia,multiple,7 ACADM MediumchainAcyl-CoAdehydrogenasedeficiency AR CAPN3 Limb-girdlemusculardystrophy,type2A AR ACADS ShortchainAcyl-CoAdehydrogenasedeficiency AR CBS Homocystinuria,CBS-related AR Ushersyndrome,typeID;Deafness,autosomal ACADSB 2-Methylbutyryl-CoAdehydrogenasedeficiency AR CDH23 AR recessive12 Lebercongenitalamaurosis10;Joubertsyndrome ACADVL VerylongchainAcyl-CoAdehydrogenasedeficiency AR CEP290 5; AR Meckelsyndrome4;Senior-Lokensyndrome6 Beta-ketothiolasedeficiency(Alpha- ACAT1 AR CERKL Retinitispigmentosa26 AR methylacetoaceticaciduria) Cysticfibrosis;Congenitalbilateralabsenceofvas ACOX1 Peroxisomalacyl-CoAoxidasedeficiency AR CFTR AR deferens SeverecombinedimmunodeficiencyduetoADA ADA AR CHAT Congenitalmyasthenicsyndrome6 AR deficiency ADAMTS2 EhlersDanlossyndrome,typeVIIC AR CHM Choroideremia AR Congenitalmyasthenicsyndrome4A;Congenital ADAR Aicardi-Goutieressyndrome6 AR CHRNE myasthenicsyndrome4B;Congenitalmyasthenic AR syndrome4C ADGRG1 Bilateralfrontoparietalpolymicrogyria AR CLN3 Neuronalceroidlipofuscinosis,CLN3-related AR AGA Aspartylglycosaminuria AR CLN5 Neuronalceroidlipofuscinosis,CLN5-related AR AGL Glycogenstoragedisease,typeIII(a&b) AR CLN6 Neuronalceroidlipofuscinosis,CLN6-related AR Neuronalceroidlipofuscinosis,CLN8-related; AGPS Rhizomelicchondrodysplasiapunctata,typeIII AR CLN8 AR Northernepilepsy AGXT Primaryhyperoxaluria,typeI AR CLRN1 Ushersyndrome,typeIIIA AR Polyglandularautoimmunesyndrome,typeI (Autoimmunepolyendocrinopathysyndrometype AIRE AR CNGA3 Achromatopsia2,CNGA3-related AR I,withorwithoutreversiblemetaphyseal dysplasia) ALDH3A2 Sjögren-Larssonsyndrome AR CNGB3 Achromatopsia3,CNGB3-related AR ALDH7A1 Pyridoxine-dependentepilepsy AR COL4A3 Alportsyndrome AR ALDOB Hereditaryfructoseintolerance AR COL4A5 Alportsyndrome,X-linked XL Dystrophicepidermolysisbullosa,autosomal ALG6 Congenitaldisorderofglycosylation,typeIc AR COL7A1 AR recessive ALPL Hypophosphatasia,autosomalrecessive AR COLQ Congenitalmyasthenicsyndrome5 AR AMT Glycineencephalopathy,AMT-related AR CPT1A CarnitinepalmitoyltransferaseIAdeficiency AR AP1S1 MEDNIKsyndrome AR CPT2 CarnitinepalmitoyltransferaseIIdeficiency AR Lebercongenitalamaurosis8;Retinitis AP3B1 Hermansky-Pudlaksyndrome,type2 AR CRB1 AR pigmentosa-12 Cystinosis,atypicalnephropathic;Cystinosis,late- onsetjuvenileoradolescentnephropathic; AR Androgeninsensitivitysyndrome XL CTNS AR Cystinosis,nephropathic; Cystinosis,ocularnonnephropathic ARSA Metachromaticleukodystrophy AR CTSD Neuronalceroidlipofuscinosis10 AR ARSB Mucopolysaccharidosis,typeVI AR CTSF Neuronalceroidlipofuscinosis13 AR ASL Argininosuccinicaciduria AR CTSK Pycnodysostosis AR CortisonemethyloxidasetypeIIdeficiency; ASNS AsparagineSynthetasedeficiency AR CYP11B2 AR CortisonemethyloxidasetypeIdeficiency Congenitaladrenalhyperplasiadueto17-alpha- ASPA Canavandisease AR CYP17A1 AR hydroxylasedeficiency ASS1 Citrullinemia,typeI AR CYP19A1 Aromatasedeficiency AR ATM Ataxia-telangiectasia AR CYP1B1 Primarycongenitalglaucoma3A AR Kufor-Rakebsyndrome(KRS); Congenitaladrenalhyperplasiadueto21- ATP13A2 AR CYP21A2 AR Autosomalrecessivespasticparaplegia-78(SPG78) hydroxylasedeficiency Renaltubularacidosisanddeafness,ATP6V1B1- ATP6V1B1 AR CYP27A1 Cerebrotendinousxanthomatosis AR related ATP7B Wilsondisease AR CYP27B1 VitaminD-dependentrickets,typeI AR BBS1 Bardet-Biedlsyndrome1 AR DBT Maplesyrupurinedisease,typeII AR Omennsyndrome;Severecombined BBS2 Bardet-Biedlsyndrome2 AR DCLRE1C AR immunodeficiency,Athabascantype BBS4 Bardet-Biedlsyndrome4 AR DHCR7 Smith-Lemli-Opitzsyndrome AR BBS7 Bardet-Biedlsyndrome7 AR DHDDS Retinitispigmentosa59 AR BBS9 Bardet-Biedlsyndrome9 AR DKC1 Dyskeratosiscongenita,X-linked XL BBS10 Bardet-Biedlsyndrome10 AR DLD Dihydrolipoamidedehydrogenasedeficiency AR BBS12 Bardet-Biedlsyndrome12 AR DMD Duchenne/Beckermusculardystrophy XL BCHE Pseudocholinesterasedeficiency AR DNAH5 Primaryciliarydyskinesiatype3,DNAH5-related AR BCKDHA Maplesyrupurinedisease,typeIa AR DNAI1 Primaryciliarydyskinesiatype1,DNAI1-related AR BCKDHB Maplesyrupurinedisease,typeIb AR DNAI2 Primaryciliarydyskinesiatype9,DNAI2-related AR DNAJC5 Neuronalceroidlipofuscinosistype4 AR GNPTG MucolipidosisIIIgamma AR Fetalakinesiadeformationsequence,DOK7- DOK7 AR GNS MucopolysaccharidosistypeIIID AR related;Congenitalmyasthenicsyndrome,10 DPYD Dihydropyrimidinedehydrogenasedeficiency AR GORAB Gerodermaosteodysplastica AR Limb-girdlemusculardystrophy,type2B; DYSF Miyoshimyopathyanddistalmyopathywith AR GRHPR Primaryhyperoxaluria,typeII AR anteriortibialonset EDA Hypohidroticectodermaldysplasia,X-linked XL GRN Neuronalceroidlipofuscinosistype11 AR Lebercongenitalamaurosis1;Choroidal EDAR Hypohidroticectodermaldysplasia10B AR GUCY2D AR dystrophy,centralareolar1 Familialhyperinsulinemichypoglycemia,familial EMD Emery-Dreifussmusculardystrophy XL HADH AR 4;3-hydroxyacyl-CoAdehydrogenasedeficiency Long-chain3-Hydroxyacyl-CoAdehydrogenase ERCC2 Xerodermapigmentosum AR HADHA AR deficiency;Trifunctionalproteindeficiency Severecongenitalneutropenia3,autosomal ETFA Glutaricacidemia,TypeIIA AR HAX1 AR recessive ETFB Glutaricacidemia,TypeIIB AR HBA1 Alpha-thalassemia AR ETFDH Glutaricacidemia,TypeIIC AR HBA2 Alpha-thalassemia AR ETHE1 Ethylmalonicencephalopathy AR HBB Beta-thalassemia,andotherhemoglobinopathies AR MegalencephalicLeukoencephalopathywith EXOSC3 Pontocerebellarhypoplasiatype1B AR HEXA AR SubcorticalCysts,types2A&2B EYS Retinitispigmentosa25,EYS-related AR HEPACAM Tay-Sachsdisease;GM2-ganlgliosidosis AR F2 Hypoprothrombinemia AR HEXB Sandhoffdisease AR F5 FactorVdeficiency AR HFE Hereditaryhemochromatosistype1,HFE-related AR Hereditaryhemochromatosistype2A,HFE2- F8 HemophiliaA XL HFE2 AR related F9 HemophiliaB XL HGD Alkaptonuria AR F11 FactorXIDeficiency AR HGSNAT Mucopolysaccharidosis,typeIIIC AR FAH Tyrosinemia,typeI AR HLCS Holocarboxylasesynthetasedeficiency AR FAM161A Retinitispigmentosa28 AR HMGCL 3-hydroxy-3-methylglutarylCoAlyasedeficiency AR FANCA Fanconianemia,complementationgroupA AR HOGA1 Primaryhyperoxaluria,typeIII AR FANCC Fanconianemia,complementationgroupC AR HPRT1 Lesch-Nyhansyndrome;HPRT-relatedgout XL FANCG FanconiAnemia,complementationgroupG AR HPS1 Hermansky-Pudlaksyndrome,type1 AR FH Fumarasedeficiency AR HPS3 Hermansky-Pudlaksyndrome,type3 AR Limb-girdlemusculardystrophy,type2I; Musculardystrophy-dystroglycanopathy (congenitalwithbrainandeyeanomalies),typeA, FKRP 5;Musculardystrophy-dystroglycanopathy AR HPS4 Hermansky-Pudlaksyndrome,type4 AR (congenitalwithorwithoutmentalretardation), typeB,5;Musculardystrophy-dystroglycanopathy (limb-girdle),typeC,5 Musculardystrophy-dystroglycanopathytype4A (Walker-Warburgsyndrome);Musculardystrophy- FKTN dystroglycanopathytype4B; AR HPS5 Hermansky-Pudlaksyndrome,type5 AR Musculardystrophy-dystroglycanopathytype4C; Cardiomyopathy,dilated,1X FragileXsyndrome;FMR1-relatedprimaryovarian FMR1 insufficiency;FragileX-associatedtremor/ataxia XL HPS6 Hermansky-Pudlaksyndrome,type6 AR syndrome 17-beta-hydroxysteroiddehydrogenase G6PC Glycogenstoragedisease,typeIA AR HSD17B3 AR deficiency,typeIII Glucose-6-phosphatedehydrogenasedeficiency; D-bifunctionalproteindeficiency;Perrault G6PD XL HSD17B4 AR HemolyticanemiaduetoG6PDdeficiency syndrome1 Congentialadrenalhyperplasiadueto3-Beta- GAA Glycogenstoragedisease,typeII AR HSD3B2 AR hydroxysteroiddehydrogenasedeficiency,typeII GALC Krabbedisease AR IDS Mucopolysaccharidosis,typeII(Huntersyndrome) XL GALK1 Galactokinasedeficiency AR IDUA Mucopolysachharidosis,typeI(Hurlersyndrome) AR GALNT3 Hyperphospatemictumoralcalcinosis,familial AR IKBKAP Familialdysautonomia(HSAN3) AR GALT Galactosemia AR IL2RG Severecombinedimmunodeficiency,X-linked XL Walker-Warburg(Musculardystrophy- dystroglycanopathy(congenitalwithbrainand GAMT Guanidinoacetatemethyltransferasedeficiency AR ISPD AR eyeanomalies),typeA,7;Musculardystrophy- dystroglycanopathy(limb-girdle),typeC,7 GBA Gaucherdisease AR IVD Isovalericacidemia AR Familialhyperinsulinemichypoglycemiatype2, GBE1 Glycogenstoragedisease,typeIV AR KCNJ11 AR KCNJ11-related Neuronalceroidlipofuscinosis14(progressive GCDH Glutaricacidemia,typeI AR KCTD7 AR myoclonicepilepsytype3) DuPansyndrome;Chondrodysplasia,Grebetype; L1syndrome; GDF5 BrachydactylytypeA1,C; AR L1CAM XL MASAsyndrome,CRASHsyndrome Acromesomelicdysplasia,Hunter-Thompsontype Herlitzjunctionalepidermolysisbullosa,LAMA3- related;Laryngoonychocutaneoussyndrome; GFPT1 Congenitalmyasthenicsyndrome12 AR LAMA3 AR Epidermolysisbullosa,generalizedatrophic benign Herlitzjunctionalepidermolysisbullosa;non- GJB1 Charcot-Marie-Toothdisease,GJB1-related XL LAMB3 AR Herlitzjunctionalepidermolysisbullosa Herlitzjunctionalepidermolysisbullosa;non- GJB2 Nonsyndromichearingloss,GJB2-related AR LAMC2 AR Herlitzjunctionalepidermolysisbullosa Musculardystrophy-dystroglycanopathy, congenitalwithbrainandeyeanomalies,type6A GJB6 NonsyndromicHearingLoss,GJB6-related AR LARGE1 (Walker-Warburg);Musculardystrophy- AR dystroglycanopathy(congenitalwithmental retardation),type6B GLA Fabrydisease XL
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    AMINO ACID DISORDERS 105 Massaro, A. S. (1995). Trypanosomiasis. In Guide to Clinical tions in biological fluids relatively easy. These Neurology (J. P. Mohrand and J. C. Gautier, Eds.), pp. 663– analyzers separate amino acids either by ion-ex- 667. Churchill Livingstone, New York. Nussenzweig, V., Sonntag, R., Biancalana, A., et al. (1953). Ac¸a˜o change chromatography or by high-pressure liquid de corantes tri-fenil-metaˆnicos sobre o Trypanosoma cruzi in chromatography. The results are plotted as a graph vitro: Emprego da violeta de genciana na profilaxia da (Fig. 1). The concentration of each amino acid can transmissa˜o da mole´stia de chagas por transfusa˜o de sangue. then be calculated from the size of the corresponding O Hospital (Rio de Janeiro) 44, 731–744. peak on the graph. Pagano, M. A., Segura, M. J., DiLorenzo, G. A., et al. (1999). Cerebral tumor-like American trypanosomiasis in Most amino acid disorders can be diagnosed by acquired immunodeficiency syndrome. Ann. Neurol. 45, measuring the concentrations of amino acids in 403–406. blood plasma; however, some disorders of amino Rassi, A., Trancesi, J., and Tranchesi, B. (1982). Doenc¸ade acid transport are more easily recognized through the Chagas. In Doenc¸as Infecciosas e Parasita´rias (R. Veroesi, Ed.), analysis of urine amino acids. Therefore, screening 7th ed., pp. 674–712. Guanabara Koogan, Sa˜o Paulo, Brazil. Spina-Franc¸a, A., and Mattosinho-Franc¸a, L. C. (1988). for amino acid disorders is best done using both South American trypanosomiasis (Chagas’ disease). In blood and urine specimens. Occasionally, analysis of Handbook of Clinical Neurology (P.
  • Palmitoyl-Protein Thioesterase 1 Deficiency in Drosophila Melanogaster Causes Accumulation

    Palmitoyl-Protein Thioesterase 1 Deficiency in Drosophila Melanogaster Causes Accumulation

    Genetics: Published Articles Ahead of Print, published on February 1, 2006 as 10.1534/genetics.105.053306 Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced lifespan Anthony J. Hickey*,†,1, Heather L. Chotkowski*, Navjot Singh*, Jeffrey G. Ault*, Christopher A. Korey‡,2, Marcy E. MacDonald‡, and Robert L. Glaser*,†,3 * Wadsworth Center, New York State Department of Health, Albany, NY 12201-2002 † Department of Biomedical Sciences, State University of New York, Albany, NY 12201-0509 ‡ Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114 1 current address: Albany Medical College, Albany, NY 12208 2 current address: Department of Biology, College of Charleston, Charleston, SC 294243 3 corresponding author: Wadsworth Center, NYS Dept. Health, P. O. Box 22002, Albany, NY 12201-2002 E-mail: [email protected] 1 running title: Phenotypes of Ppt1-deficient Drosophila key words: Batten disease infantile neuronal ceroid lipofuscinosis palmitoyl-protein thioesterase CLN1 Drosophila corresponding author: Robert L. Glaser Wadsworth Center, NYS Dept. Health P. O. Box 22002 Albany, NY 12201-2002 E-mail: [email protected] phone: 518-473-4201 fax: 518-474-3181 2 ABSTRACT Human neuronal ceroid lipofuscinoses (NCLs) are a group of genetic neurodegenerative diseases characterized by progressive death of neurons in the central nervous system (CNS) and accumulation of abnormal lysosomal storage material. Infantile NCL (INCL), the most severe form of NCL, is caused by mutations in the Ppt1 gene, which encodes the lysosomal enzyme palmitoyl-protein thioesterase 1 (Ppt1). We generated mutations in the Ppt1 ortholog of Drosophila melanogaster in order to characterize phenotypes caused by Ppt1-deficiency in flies.