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Newborndxtm Advanced Sequencing Evaluation Disorders List

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NewbornDxTM Advanced Sequencing Evaluation Disorders List Skeletal Abnormal bone and cartilage Contractures (cont.) Disorder Associated gene(s) Disorder Associated gene(s) Alpha-mannosidosis MAN2B1 Lethal arthrogryposis, with anterior GLE1 horn cell disease Camurati-Engelmann disease TGFB1 Lethal congenital contracture syndrome ADCY6, CNTNAP1, DNM2, Cerebrocostomandibular syndrome SNRPB ERBB3, GLE1, MYBPC1, Chondrocalcinosis ANKH PIP5K1C Chondrodysplasia punctata ARSE, EBP, PTH1R Marden-Walker syndrome PIEZO2 Chondrodysplasia with joint dislocations IMPAD1 Multicentric osteolysis, MMP2 nodulosis, and arthropathy Craniometaphyseal dysplasia ANKH Osteogenesis Imperfecta BMP1 Eiken syndrome PTH1R Osteogenesis imperfecta COL1A1, COL1A2, CRTAP, Familial osteochondritis dissecans ACAN FKBP10, IFITM5, P3H1, PPIB, Fibrodysplasia ossificans progressiva ACVR1 SERPINF1, SERPINH1, SP7, TMEM38B, WNT1 Hyperphosphatasia with PGAP3, PIGV mental retardation syndrome Osteopathia striata with cranial sclerosis AMER1 Kabuki syndrome KDM6A Osteopetrosis with renal tubular acidosis CA2 Keutel syndrome MGP Van den Ende-Gupta syndrome SCARF2 Klippel-Feil syndrome GDF3, GDF6, MEOX1, Winchester syndrome MMP14 MYO18B Lethal restrictive dermopathy ZMPSTE24 Hand and foot abnormalities Mandibuloacral dysplasia with ZMPSTE24 Adams-Oliver syndrome ARHGAP31, DOCK6, EOGT, type B lipodystrophy NOTCH1 Marshall-Smith syndrome NFIX Atelosteogenesis SLC26A2 Metaphyseal chondrodysplasia PTH1R Bardet-Biedl syndrome ARL6, BBIP1, IFT27, LZTFL1, MKKS, MKS1 Multiple epiphyseal dysplasia with EIF2AK3 early-onset diabetes mellitus Brachydactyly BMP2, BMPR1B, HOXD13, Short-rib thoracic dysplasia DYNC2H1, IFT140, IFT80, NEK1, PTHLH TTC21B, WDR19, WDR35 Catel-Manzke syndrome TGDS Sotos syndrome NFIX, NSD1 Ciliopathy CC2D2A, CEP290, IFT172, SDCCAG8 Bone fragility COACH syndrome CC2D2A, TMEM67 Glycogen storage disease type IV GBE1 Coffin-Siris syndrome ARID1A, ARID1B, SMARCA4, Arthrogryposis-renal dysfunction-cholestasis VIPAS39, VPS33B SMARCB1, SMARCE1 syndrome Congenital clubfoot with or without deficiency PITX1 Arthrogryposis, mental retardation, and seizures SLC35A3 of long bones, mirror-image polydactyly Bruck syndrome PLOD2 Culler-Jones syndrome GLI2 Caffey disease COL1A1 Diastrophic dysplasia SLC26A2 Cerebrooculofacioskeletal syndrome ERCC1, ERCC5 Hay-Wells syndrome TP63 Cockayne syndrome ERCC6, ERCC6, ERCC8 Joubert syndrome CC2D2A, CEP290, CEP41, NPHP1, NPHP4 Congenital contractural arachnodactyly FBN2 Loeys-Dietz syndrome SMAD3, TGFB2, TGFB3, TGF- Congenital contractures, hypotonia, NALCN BR1, TGFBR2 and developmental delay Meckel syndrome B9D1, CEP290, EXOC4, NPHP3, TMEM67 Contractures Megalencephaly-capillary syndrome PIK3CA Distal arthrogryposis ECEL1, MYBPC1, MYH3, TNNI2, TNNT3, TPM2 Multiple synostoses syndrome NOG Ehlers-Danlos syndrome B4GALT7, CHST14, COL1A1, Opsismodysplasia INPPL1 COL1A2, COL3A1, COL5A1, Pallister-Hall syndrome GLI3 COL5A2, FKBP14, PLOD1 Pitt-Hopkins-like syndrome CNTNAP2 Histiocytosislymphadenopathy plus syndrome SLC29A3 Postaxial polydactyly ZNF141 Infantile hypotonia, psychomotor NALCN retardation, characteristic facies This document lists disorders and genes included in the NewbornDxTM Advanced Sequencing Evaluation Panel as of November 2019. Athena Diagnostics offers a comprehensive genetic test menu. Customers in the US and Canada, please call 1.800.394.4493 (toll-free), or visit us online at AthenaDiagnostics.com/NewbornDx. Hand and foot abnormalities (cont.) Short stature (cont.) Disorder Associated gene(s) Disorder Associated gene(s) Rubinstein-Taybi syndrome EP300 Marshall syndrome COL11A1 Scalp-ear-nipple syndrome KCTD1 Meier-Gorlin syndrome CDC6, CDT1, ORC1, ORC4, ORC6 Split-hand/foot malformation DLX5, FBXW4 Microcephalic osteodysplastic PCNT Split-hand/foot malformation with DLX5 primordial dwarfism sensorineural hearing loss Microcephaly, short stature, and polymicro- RTTN Syndactyly GJA1 gyria with seizures Synpolydactyly FBLN1, HOXD13 Multiple joint dislocation syndrome B3GAT3 Temtamy preaxial CHSY1 Nicolaides-Baraitser syndrome SMARCA2 brachydactyly syndrome Nijmegen breakage syndrome NBN Townes-Brocks syndrome SALL1 Noonan syndrome A2ML1, BRAF, KRAS, LZTR1, Trichorhinophalangeal syndrome TRPS1 NRAS, PTPN11, RAF1, RASA2, Trismus-pseudocamptodactyly syndrome MYH8 RIT1, RRAS, SOS1, SOS2 Weill-Marchesani syndrome ADAMTS10 Noonan syndrome-like disorder with or CBL without juvenile myelomonocytic leukemia Overgrowth Noonan-like syndrome with SHOC2 loose anagen hair Beckwith-Wiedemann syndrome CDKN1C Osteoarthritis with mild chondrodysplasia COL2A1 Kosaki overgrowth syndrome PDGFRB Phosphorylase kinase PHKB Perlman syndrome DIS3L2 deficiency of liver and muscle Sotos syndrome NFIX, NSD1 Platyspondylic lethal skeletal dysplasia COL2A1 Resistance to insulin-like growth factor I IGF1R Short stature Rhizomelic chondrodysplasia punctata AGPS, GNPAT 17-alpha-hydroxylasedeficient CYP17A1 Roberts syndrome ESCO2 congenital adrenal hyperplasia Rothmund-Thomson syndrome RECQL4 3-M syndrome CCDC8, CUL7, OBSL1 SC phocomelia syndrome ESCO2 Aarskog-Scott syndrome FGD1 Schimke immunoosseous dysplasia SMARCAL1 Achondrogenesis COL2A1, SLC26A2, TRIP11 Schwartz-Jampel syndrome HSPG2 Achondroplasia FGFR3 Short stature with nonspecific NPR2 Acrocapitofemoral dysplasia IHH skeletal abnormalities Acrodysostosis with or PDE4D Short stature, onychodysplasia, facial POC1A without hormone resistance dysmorphism, and hypotrichosis Acromesomelic chondrodysplasia GDF5 Smith-McCort dysplasia DYM, RAB33B Acromesomelic dysplasia BMPR1B Spondylo-megaepiphysealmetaphyseal NKX3-2 Anauxetic dysplasia POP1 dysplasia Auriculocondylar syndrome GNAI3, PLCB4 Spondylocheirodysplasia SLC39A13 Brachydactyly BMP2, BMPR1B, HOXD13, Spondylocostal dysostosis DLL3, HES7, MESP2, TBX6 PTHLH Spondyloenchondrodysplasia ACP5 Cardiofaciocutaneous BRAF, KRAS, MAP2K1 with immune dysregulation syndrome Spondyloepimetaphyseal dysplasia MMP13 Carney complex MYH8, PRKAR1A Spondyloepimetaphyseal KIF22 Coffin-Lowry syndrome RPS6KA3 dysplasia with joint laxity Costello syndrome HRAS Spondyloepiphyseal dysplasia with CHST3 congenital joint dislocations COUSIN syndrome TBX15 Spondylometaepiphyseal dysplasia DDR2 Dyggve-Melchior-Clausen DYM disease Spondyloperipheral dysplasia COL2A1 Ellis-van Creveld syndrome EVC, EVC2 Stickler syndrome COL11A1, COL2A1, COL9A1 Epiphyseal chondrodysplasia NPR2 Thanatophoric dysplasia FGFR3 Fibrochondrogenesis COL11A1 Weyers acrofacial dysostosis EVC, EVC2 Floating-Harbor syndrome SRCAP Wiedemann-Steiner syndrome KMT2A Geleophysic dysplasia ADAMTSL2 Skull abnormalities Intrahepatic cholestasis of pregnancy ABCB11 3MC syndrome MASP1 KBG syndrome ANKRD11 Apert syndrome FGFR2 Kniest dysplasia COL2A1 Beare-Stevenson syndrome FGFR2 This document lists disorders and genes included in the NewbornDxTM Advanced Sequencing Evaluation Panel as of November 2019. Athena Diagnostics offers a comprehensive genetic test menu. Customers in the US and Canada, please call 1.800.394.4493 (toll-free), or visit us online at AthenaDiagnostics.com/NewbornDx. Skull abnormalities (cont.) Upper and/or lower limb defects (cont.) Disorder Associated gene(s) Disorder Associated gene(s) Bent bone dysplasia syndrome FGFR2 Omodysplasia GPC6 Carpenter syndrome MEGF8, RAB23 Otospondylomegaepiphyseal COL11A2 dysplasia Cleidocranial dysplasia RUNX2 Paget disease of bone TNFRSF11B Cranioectodermal dysplasia IFT122, IFT43, WDR35 Peters plus syndrome B3GLCT Cranioosteoarthropathy HPGD Raine syndrome FAM20C Craniosynostosis ERF, TCF12 Robinow syndrome ROR2, WNT5A Crouzon syndrome FGFR2 Schneckenbecken dysplasia SLC35D1 Frank-ter Haar syndrome SH3PXD2B Skeletal disease LMBR1 Hydrolethalus syndrome HYLS1 Small patella syndrome TBX4 Knobloch syndrome COL18A1 Spondylocarpotarsal synostosis FLNB Lenz-Majewski hyperostotic dwarfism PTDSS1 syndrome Oculodentodigital dysplasia GJA1 Stuve-Wiedemann syndrome/ LIFR Pycnodysostosis CTSK Schwartz-Jampel syndrome Ritscher-Schinzel syndrome CCDC22, KIAA0196 Temtamy syndrome C12orf57 Saethre-Chotzen syndrome FGFR2, TWIST1 Ulnar-mammary syndrome TBX3 Schinzel-Giedion midface retraction syndrome SETBP1 Weissenbacher-Zweymuller syndrome COL11A2 Shprintzen-Goldberg syndrome SKI Respiratory Tall stature Abnormal breathing Marfan syndrome FBN1 Brown-Vialetto-Van Laere syndrome SLC52A2, SLC52A3 Weaver syndrome EZH2 Central hypoventilation syndrome ASCL1, EDN3, GDNF, PHOX2B, RET Upper and/or lower limb defects Hyperekplexia SLC6A5 Acro-renal-ocular syndrome SALL4 Neonatal diabetes with cerebellar PTF1A Acrofacial dysostosis SF3B4 agenesis Bainbridge-Ropers syndrome ASXL3 Pitt-Hopkins syndrome NRXN1, TCF4 Campomelic dysplasia SOX9 Pitt-Hopkins-like syndrome CNTNAP2 Cartilage-hair hypoplasiaanauxetic dysplasia RMRP spectrum disorders Chronic respiratory infection/disease Caudal regression syndrome VANGL1 Alpha-1-antitrypsin deficiency SERPINA1 Chondrodysplasia punctata ARSE, EBP, PTH1R Cystic fibrosis CFTR Desbuquois dysplasia CANT1, XYLT1 Keutel syndrome MGP Duane-radial ray syndrome SALL4 Developmental abnormalities Eiken syndrome PTH1R Hereditary hemorrhagic telangiectasia ACVRL1, ENG Endocrinecerebroosteodysplasia ICK Primary pulmonary arterial hypertension BMPR2, CAV1, KCNK3, SMAD9 Frontometaphyseal dysplasia FLNA Pulmonary venoocclusive disease EIF2AK4 Fuhrmann syndrome WNT7A Greenberg skeletal dysplasia LBR Pulmonary fibrosis Holt-Oram syndrome SALL4, TBX5 Hermansky-Pudlak syndrome AP3B1, BLOC1S6 Hypophosphatasia ALPL Dyskeratosis congenita DKC1, RTEL1, TERT, TINF2
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  • Advances in Understanding the Genetics of Syndromes Involving Congenital Upper Limb Anomalies

    Advances in Understanding the Genetics of Syndromes Involving Congenital Upper Limb Anomalies

    Review Article Page 1 of 10 Advances in understanding the genetics of syndromes involving congenital upper limb anomalies Liying Sun1#, Yingzhao Huang2,3,4#, Sen Zhao2,3,4, Wenyao Zhong1, Mao Lin2,3,4, Yang Guo1, Yuehan Yin1, Nan Wu2,3,4, Zhihong Wu2,3,5, Wen Tian1 1Hand Surgery Department, Beijing Jishuitan Hospital, Beijing 100035, China; 2Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; 3Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing 100730, China; 4Department of Orthopedic Surgery, 5Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China Contributions: (I) Conception and design: W Tian, N Wu, Z Wu, S Zhong; (II) Administrative support: All authors; (III) Provision of study materials or patients: All authors; (IV) Collection and assembly of data: Y Huang; (V) Data analysis and interpretation: L Sun; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Wen Tian. Hand Surgery Department, Beijing Jishuitan Hospital, Beijing 100035, China. Email: [email protected]. Abstract: Congenital upper limb anomalies (CULA) are a common birth defect and a significant portion of complicated syndromic anomalies have upper limb involvement. Mostly the mortality of babies with CULA can be attributed to associated anomalies. The cause of the majority of syndromic CULA was unknown until recently. Advances in genetic and genomic technologies have unraveled the genetic basis of many syndromes- associated CULA, while at the same time highlighting the extreme heterogeneity in CULA genetics. Discoveries regarding biological pathways and syndromic CULA provide insights into the limb development and bring a better understanding of the pathogenesis of CULA.
  • Yeast Genome Gazetteer P35-65

    Yeast Genome Gazetteer P35-65

    gazetteer Metabolism 35 tRNA modification mitochondrial transport amino-acid metabolism other tRNA-transcription activities vesicular transport (Golgi network, etc.) nitrogen and sulphur metabolism mRNA synthesis peroxisomal transport nucleotide metabolism mRNA processing (splicing) vacuolar transport phosphate metabolism mRNA processing (5’-end, 3’-end processing extracellular transport carbohydrate metabolism and mRNA degradation) cellular import lipid, fatty-acid and sterol metabolism other mRNA-transcription activities other intracellular-transport activities biosynthesis of vitamins, cofactors and RNA transport prosthetic groups other transcription activities Cellular organization and biogenesis 54 ionic homeostasis organization and biogenesis of cell wall and Protein synthesis 48 plasma membrane Energy 40 ribosomal proteins organization and biogenesis of glycolysis translation (initiation,elongation and cytoskeleton gluconeogenesis termination) organization and biogenesis of endoplasmic pentose-phosphate pathway translational control reticulum and Golgi tricarboxylic-acid pathway tRNA synthetases organization and biogenesis of chromosome respiration other protein-synthesis activities structure fermentation mitochondrial organization and biogenesis metabolism of energy reserves (glycogen Protein destination 49 peroxisomal organization and biogenesis and trehalose) protein folding and stabilization endosomal organization and biogenesis other energy-generation activities protein targeting, sorting and translocation vacuolar and lysosomal
  • Congenital Disorders of Glycosylation from a Neurological Perspective

    Congenital Disorders of Glycosylation from a Neurological Perspective

    brain sciences Review Congenital Disorders of Glycosylation from a Neurological Perspective Justyna Paprocka 1,* , Aleksandra Jezela-Stanek 2 , Anna Tylki-Szyma´nska 3 and Stephanie Grunewald 4 1 Department of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia, 40-752 Katowice, Poland 2 Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland; [email protected] 3 Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, W 04-730 Warsaw, Poland; [email protected] 4 NIHR Biomedical Research Center (BRC), Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, London SE1 9RT, UK; [email protected] * Correspondence: [email protected]; Tel.: +48-606-415-888 Abstract: Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post- translational transformation of most human proteins. Since glycosylation processes are necessary for many different biological processes, patients present a diverse spectrum of phenotypes and severity of symptoms. The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. Epilepsy is seen in many CDG subtypes and particularly present in the case of mutations