Defectos congénitos

Secuenciación del genoma mejora diagnóstico en niños

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SequencingLa secuenciación del genoma de 138 individuos de 49 familias, permitió llegar a un nuevo diagnóstico molecular en el 30,6 % de los casos, y al menos 11 de aquellas recibieron información útil para el manejo de la enfermedad. Otros resultados son descritos en Costain G, Walker S, Marano M, Vennma D, Snell M, Curtis M, et al. Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. JAMA Netw Open. 2020;3(9):e2018109.

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Polimorfismos, mutaciones y variantes: canales iónicos, sueño, mortinatos, anencefalia, infarto cardiaco, cáncer

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– Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction
– Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts
– Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
– Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits
– Causal Genetic Variants in Stillbirth
– A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

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Nuevas variantes y asociaciones de riesgo

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2019 07 03 CTCF– Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2.
– Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
– CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
– Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.

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Asociaciones: alcoholismo, cáncer pancreático, obesidad, defectos congénitos

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– Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations
– Identification and Validation of a Biomarker Signature in Patients With Resectable Pancreatic Cancer via Genome-Wide Screening for Functional Genetic Variants
– Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis
– Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

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Aplicaciones diversas de tecnologías de secuenciación

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– Papalexi E, Satija R. Single-cell RNA sequencing to explore immune cell heterogeneity. Nature Reviews Immunology, 2018;18:35–45.
– Patil VS, Madrigal A, Schmiedel BJ, Clarke J, O’Rourke P, de Silva AD, et al. Precursors of human CD4+ cytotoxic T lymphocytes identified by single-cell transcriptome analysis. Science Immunology, 2018;3(19):eaan8664.
– Tso FY, Kossenkov AV, Lidenge SJ, Ngalamika O, Ngowi JR, Mwaiselage J, et al. RNA-Seq of Kaposi’s sarcoma reveals alterations in glucose and lipid metabolism. PLoS Pathog, 2018;14(1):e1006844.

– Porubsky D, Garg S, Sanders AD, Korbel JO, Guryev V, Lansdorp PM, et al. Dense and accurate whole-chromosome haplotyping of individual genomes. Nature Communications, 2018;8:1293.
– Stancu MC, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, et al. Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Nature Communications, 2018;8:1326.
– Shriner D, Rotimi CN. Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase. Am j Human Genetics, 2018; DOI: https://doi.org/10.1016/j.ajhg.2018.02.003.

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Nuevas variantes, mutaciones y asociaciones

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– Demenais F, Margaritte-Jeannin P, Nicolae DL. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nature Genetics, 2017;50(1):42.
– Roberts ME, Jackson SA, Susswein LR, Zeinomar N, Ma X, Marshall ML, et al. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genetics in Medicine, 2018; doi:10.1038/gim.2017.254.
– Moreno-Moral A, Bagnati M, Koturan S, Ko JH, Fonseca C, Harmston N, et al. Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk. Annals of the Rheumatic Diseases, 2018; doi: 10.1136/annrheumdis-2017-212454.
– Coll F, Phelan J, Clark TG. Genome-wide analysis of multi- and extensively drug-resistant Mycobacterium tuberculosis. Nature Genetics, 2018; doi:10.1038/s41588-017-0029-0.

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Novedades en edición del genoma

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– Bak RO, Dever DP, Porteus MH. CRISPR/Cas9 genome editing in human hematopoietic stem cells. Nature Protocols, 2018;13:358–376.
– Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, et al. Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents. Nature, 2018;553:217–221.
– Behler J, Sharma K, Reimann V, Wilde A, Urlaub H, Hess WR. The host-encoded RNase E endonuclease as the crRNA maturation enzyme in a CRISPR–Cas subtype III-Bv system. Nature Microbiology, 2018;3:367–377.
– King A. A CRISPR edit for heart disease. Nature, 2018;555:S23-S25.
– Scott A. How CRISPR is transforming drug discovery. Nature, 2018;555:S10-S11.

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Ensayan edición del genoma in vivo para tratar sordera genética

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2017 12 20 - deafnessLa inyección coclear de complejos de lípidos-ARN con Cas9 en un modelo animal de sordera humana de causa genética y transmisión autosómica dominante, dirigidos al alelo Tmc1, resultó en la reducción de la pérdida progresiva de la audición, entre otros indicadores. El reporte recién ha aparecido en Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, et al. Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents. Nature 2017; doi:10.1038/nature25164.

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Corrigen inmunodeficiencia por edición del genoma en modelo animal

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2017 10 22 stem cellsUn modelo de inmunodeficiencia severa ligada al X (SCID-X1) en ratones con un sistema inmune humanizado fue tratado por medio de la edición del genoma con CRISPR/Cas9 para la corrección del gen IL2RG. Se estandarizaron los procedimientos que permiten la traducción clínica para esa y otras enfermedades. Así se presenta en Schiroli G, Ferrari S, Conway A, Jacob A, Capo V, Albano L, et al. Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1. Science Translational Medicine 11 Oct 2017;9(411):eaan0820.

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Nuevas variantes, mutaciones y asociaciones

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– Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis
– Human venous valve disease caused by mutations in FOXC2 and GJC2
– A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
– The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome
– Genetic Associations with Gestational Duration and Spontaneous Preterm Birth
– A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson’s Disease
– Autosomal recessive agammaglobulinemia due to defect in µ heavy chain caused by a novel mutation in the IGHM gene
– Identifying genetic variants that affect viability in large cohorts
– A functional genomics predictive network model identifies regulators of inflammatory bowel disease

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