Correlaciones genotipo-fenotipo

Smitha Kumbl et al. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. PMID: 34859529

Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R Lemke, John A Bernat, Hannah M Bombei, Nicola Foulds, David Hunt, Alma Kuechler, Jasmin Beygo, Petra Stöbe, Arjan Bouman, Maria Palomares-Bralo, Fernando Santos-Simarro, Sixto Garcia-Minaur, Marta Pacio-Miguez, Bernt Popp, Georgia Vasileiou, Moritz Hebebrand, André Reis, Sarah Schuhmann, Mandy Krumbiegel, Natasha J Brown, Peter Sparber, Lyusya Melikyan, Liudmila Bessonova, Tatiana Cherevatova, Artem Sharkov, Natalia Shcherbakova, Tabib Dabir, Usha Kini, Eva M C Schwaibold, Tobias B Haack, Marta Bertoli, Sabine Hoffjan, Ruth Falb, Marwan Shinawi, Heinrich Sticht, Christiane Zweier. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265. PMID: 34505148.

Lance H Rodan et al. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):2016. doi: 10.1038/s41436-021-01306-7. PMID: 34522029.

Agustí Rodríguez-Palmero et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. PMID: 33597769.

Pauline E Schneeberger et al. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. PMID: 32761064.

Lance H Rodan et al. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. PMID: 34163037.

Jair Tenorio et al. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. PMID: 31685998.

Matthias Baumann et al. Further delineation of putative ACTB loss-of-function variants: A 4-patient series. Hum Mutat. 2020 Apr;41(4):753-758. doi: 10.1002/humu.23970. Epub 2020 Jan 16. PMID: 31898838.

Jameson Patak et al. MAGEL2-related disorders: A study and case series. Clin Genet. 2019 Dec;96(6):493-505. doi: 10.1111/cge.13620. Epub 2019 Aug 22. PMID: 31397880.

Andrea Angius et al. Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. PMID: 30859550.

Parisa Hemati et al. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. PMID: 30194818.

Luis Fernández et al. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype. Rev Esp Cardiol (Engl Ed). 2018 Jul;71(7):545-552. doi: 10.1016/j.rec.2017.10.013. Epub 2017 Nov 14. PMID: 29146485.

Fernando Santos-Simarro et al. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. Eur J Med Genet. 2021 Nov;64(11):104338. doi: 10.1016/j.ejmg.2021.104338. Epub 2021 Sep 7. PMID: 34500087.

Lucía Quintana Castanedo et al. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Pediatr Dermatol. 2020 May;37(3):517-519. doi: 10.1111/pde.14113. Epub 2020 Feb 11. PMID: 32045494.

Sulagna Tina Kushary et al. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31. PMID: 34331327.

Jair Tenorio-Castaño et al. Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738. PMID: 34068396.

Sofía M Siccha et al. Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature. Am J Med Genet A. 2021 Mar;185(3):856-865. doi: 10.1002/ajmg.a.62010. Epub 2020 Dec 11. PMID: 33305909.

Marta Pacio Miguez et al. Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18. PMID: 32808430.

G Gordo et al. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13. PMID: 28892148.

María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D Rendtorff, Miguel A Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio Del Castillo. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. Genes (Basel). 2022 Jan 15;13(1):149. doi: 10.3390/genes13010149. PMID: 35052489; PMCID: PMC8775161.

Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Elena Martín-Hernández, Cristina Durán-Aparicio, Abraham Merino-López, Enrique Medina-Benítez, Francisco Martínez-Azorín. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. Mol Genet Metab. 2021 Jun;133(2):201-210. doi: 10.1016/j.ymgme.2021.02.007. Epub 2021 Feb 27. PMID: 33707149.

Lilián Galbis-Martínez, Fiona Blanco-Kelly, Gema García-García, Almudena Ávila-Fernández, Teresa Jaijo, Carla Fuster-García, Irene Perea-Romero, Olga Zurita-Muñoz, Belén Jimenez-Rolando, Ester Carreño, Blanca García-Sandoval, José M Millán, Carmen Ayuso. Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. Acta Ophthalmol. 2021 Dec;99(8):922-930. doi: 10.1111/aos.14795. Epub 2021 Feb 11. PMID: 33576163.

Rosario Lopez-Rodriguez, Esther Lantero, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Inmaculada Martin Merida, Marta Del Pozo-Valero, Irene Perea-Romero, Olga Zurita, Belén Jiménez-Rolando, Saoud Tahsin Swafiri, Rosa Riveiro-Alvarez, María José Trujillo-Tiebas, Ester Carreño Salas, Blanca García-Sandoval, Marta Corton, Carmen Ayuso. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients. Exp Eye Res. 2021 Nov;212:108761. doi: 10.1016/j.exer.2021.108761. Epub 2021 Sep 4. PMID: 34492281.

María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Marcello Bellusci, Abraham Merino-López, Silvia Chumilla-Calzada, María Teresa García-Silva, Francisco Martínez-Azorín. New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient. Neuromuscul Disord. 2021 Aug;31(8):773-782. doi: 10.1016/j.nmd.2021.05.008. Epub 2021 May 28. PMID: 34210538.

Tort F, Barredo E, Parthasarathy R, Ugarteburu O, Ferrer-Cortès X, García-Villoria J, Gort L, González-Quintana A, Martín MA, Fernández-Vizarra E, Zeviani M, Ribes A. Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution. Mol Genet Metab. 2020 Nov;131(3):349-357. doi: 10.1016/j.ymgme.2020.10.005. Epub 2020 Oct 13. PMID: 33153867.

González-Quintana A, Trujillo-Tiebas MJ, Fernández-Perrone AL, Blázquez A, Lucia A, Morán M, Ugalde C, Arenas J, Ayuso C, Martín MA. Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. Mol Genet Metab. 2020 Nov;131(3):341-348. doi: 10.1016/j.ymgme.2020.10.008. Epub 2020 Oct 16. PMID: 33093004.

Cotrina-Vinagre FJ, Rodríguez-García ME, Martín-Hernández E, Durán-Aparicio C, Merino-López A, Medina-Benítez E, Martínez-Azorín F. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. Mol Genet Metab. 2021 Feb 27:S1096-7192(21)00055-X. doi: 10.1016/j.ymgme.2021.02.007. Epub ahead of print. PMID: 33707149.

Cervera Bravo A, Osuna Marco MP, Morán-Jiménez MJ, Martín-Hernández E. Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C. J Pediatr Hematol Oncol. 2021 Mar 3. doi: 10.1097/MPH.0000000000002135. Epub ahead of print. PMID: 33661177.

Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228. PMID: 32875335.

Panadés-de Oliveira L, Montoya J, Emperador S, Ruiz-Pesini E, Jericó I, Arenas J, Hernández-Lain A, Blazquez A, Martin MA, Dominguez-Gonzalez C. A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues. Mitochondrion 2020; 50:14–8. PMID: 31639449.

Rodríguez-García ME, Cotrina-Vinagre FJ, Gómez-Cano MLÁ, Martínez de Aragón A, Martín-Hernández E, Martínez-Azorín F. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. Am J Med Genet A. 2020 Jun;182(6):1483-1490. doi: 10.1002/ajmg.a.61560. Epub 2020 Mar 21. PMID: 32198973.

Peralta S, González-Quintana A, Ybarra M, Delmiro A, Pérez-Pérez R, Docampo J, Arenas J, Blazquez B, Arenas J, Ugalde C, Martín MA. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. Mol Genet Metab 2019;128:452–62. PMID: 31727539.

de Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Olivé M, Sánchez-Calvín MT, Gonzalo-Martínez JF, Domínguez-González C. Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations. Brain. 2019 Dec 1;142(12):e66. doi: 10.1093/brain/awz317. PMID: 31612903.

Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P, Martín-Hernández E, Martínez-Azorín F. A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. Eur J Hum Genet. 2019 Sep;27(9):1369-1378. doi: 10.1038/s41431-019-0418-1. Epub 2019 May 3. PMID: 31053780; PMCID: PMC6777539.

de Fuenmayor-Fernández de la Hoz CP, Morís G, Jiménez-Mallebrera C, Badosa C, Hernández-Laín A, Blázquez Encinar A, Martín MÁ, Domínguez-González C. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency. Mol Genet Metab Rep. 2021 Jan 6;26:100701. doi: 10.1016/j.ymgmr.2020.100701. PMID: 33457207; PMCID: PMC7797901.

Garcia-Solaesa V, Serrano-Lorenzo P, Ramos-Arroyo MA, Blázquez A, Pagola-Lorz I, Artigas-López M, Arenas J, Martín MA, Jericó-Pascual I. A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population. Genes (Basel). 2019 Oct 10;10(10):785. doi: 10.3390/genes10100785. PMID: 31658606; PMCID: PMC6826351.

Rodríguez-García ME, Cotrina-Vinagre FJ, Arranz-Canales E, Aragón AM, Hernández-Sánchez L, Rodríguez-Fornés F, Carnicero-Rodríguez P, Morales-Conejo M, Martín-Hernández E, Martínez-Azorín F. A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem. J Genet. 2020;99:7. PMID: 32089526.

Quintana Castanedo L, Sánchez Orta A, Maseda Pedrero R, Santos Simarro F, Palomares Bralo M, Feito Rodríguez M, de Lucas Laguna R. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Pediatr Dermatol. 2020 May;37(3):517-519. doi: 10.1111/pde.14113. Epub 2020 Feb 11. PMID: 32045494.

Peces R, Mena R, Peces C, Santos-Simarro F, Fernández L, Afonso S, Lapunzina P, Selgas R, Nevado J. Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report. Mol Genet Genomic Med. 2019 Apr;7(4):e00568. doi: 10.1002/mgg3.568. Epub 2019 Feb 19. PMID: 30784238.

Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S; SOGRI Consortium, Cigudosa JC, Pérez-Jurado LA, Lapunzina P. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. Clin Genet. 2020 Mar;97(3):467-476. doi: 10.1111/cge.13689. Epub 2020 Jan 23. PMID: 31972898.

Rodríguez-Contreras FJ, Marbán-Calzón M, Vallespín E, Del Pozo Á, Solís-López M, Lobato-Vidal N, Fernández-Elvira M, Del Valle Rex-Romero M, Heath KE, González-Casado I, Campos-Barros Á. Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency. Am J Med Genet A. 2019 Aug;179(8):1591-1597. doi: 10.1002/ajmg.a.61201. Epub 2019 May 23. PMID: 31120642.

Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study, Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4. PMID: 29974297.

Marakhonov AV, Voskresenskaya AA, Ballesta MJ, Konovalov FA, Vasilyeva TA, Blanco-Kelly F, Pozdeyeva NA, Kadyshev VV, López-González V, Guillen E, Ayuso C, Zinchenko RA, Corton M. Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis. Orphanet J Rare Dis. 2020 Aug 13;15(1):207. doi: 10.1186/s13023-020-01484-8. PMID: 32791987; PMCID: PMC7427288.

Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17. PMID: 32817297.

Bonet-Fernández JM, Aroca-Aguilar JD, Corton M, Ramírez AI, Alexandre-Moreno S, García-Antón MT, Salazar JJ, Ferre-Fernández JJ, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández CD, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa JM, García-Feijoo J, Escribano J. CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. Hum Genet. 2020 Oct;139(10):1209-1231. doi: 10.1007/s00439-020-02164-0. Epub 2020 Apr 9. PMID: 32274568.

Beigi F, Del Pozo-Valero M, Martin-Merida I, Vahidi Mehrjardi MY, Manaviat MR, Sherafat A, Ayuso C, Ghasemi N. Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene. Ophthalmic Genet. 2020 Feb;41(1):90-92. doi: 10.1080/13816810.2020.1720743. Epub 2020 Feb 10. PMID: 32039643.

Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N. Identification of PITX3 mutations in individuals with various ocular developmental defects. Ophthalmic Genet. 2018 Jun;39(3):314-320. doi: 10.1080/13816810.2018.1430243. Epub 2018 Feb 6. PMID: 29405783.

Yahyaoui R, Blasco-Alonso J, Benito C, Rodríguez-García E, Andrade F, Aldámiz-Echevarría L, Muñoz-Hernández MC, Vega AI, Pérez-Cerdá C, García-Martín ML, Pérez B. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening. Journal of Inherited Metabolic Diseases J Inherit Metab Dis 2019 May;42(3):407-413. doi: 10.1002/jimd.12063. PMID: 30671984.