المؤلفون: Ottenhoff, M.J. (Myrthe), Rietman, A.B. (André), Mous, S.E. (Sabine), Plasschaert, E. (Ellen), Gawehns, D. (Daniela), Brems, H. (Hilde), Oostenbrink, R. (Rianne), Wit, M.C.Y. (Marie Claire) de, Nijs, P.F.A. (Pieter) de, Legerstee, J.S. (Jeroen), Dieleman, G.C. (Gwen), Hoopen, L.W. (Leontine) ten, Thornton, A.S. (Andrew), Nellist, M.D. (Mark), Schorry, E. (Elizabeth), Legius, E. (Eric), Moll, H.A. (Henriëtte), Elgersma, Y. (Ype)

المصدر: Genetics in Medicine

مصطلحات موضوعية: genotype–phenotype association, intelligence quotient, neurofibromatosis type 1, phenotypic variability, twin study

الوصف: Purpose: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder associated with cognitive deficits. The NF1 cognitive phenotype is generally considered to be highly variable, possibly due to the observed T2-weighted hyperintensities, loss of heterozygosity, NF1-specific genetic modifiers, or allelic imbalance. Methods: We investigated cognitive variability and assessed the contribution of genetic factors by performing a retrospective cohort study and a monozygotic twin case series. We included data of 497 children with genetically confirmed NF1 and an IQ assessment, including 12 monozygotic twin and 17 sibling sets. Results: Individuals carrying an NF1 chromosomal microdeletion showed significant lower full-scale IQ (FSIQ) scores than individuals carrying intragenic pathogenic NF1 variants. For the intragenic subgroup, the variability in cognitive ability and the correlation of IQ between monozygotic NF1 twin pairs or between NF1 siblings is similar to the general population. Conclusions: The variance and heritability of IQ in individuals with NF1 are similar to that of the general population, and hence mostly driven by genetic background differences. The only factor that significantly attenuates IQ in NF1 individuals is the NF1 chromosomal microdeletion genotype. Implications for clinical management are that individuals with intragenic NF1 variants that score <1.5–2 SD below the mean of the NF1 population should be screened for additional causes of cognitive disability.

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/124697Test; urn:hdl:1765/124697

الإتاحة: https://doi.org/10.1038/s41436-020-0752-2Test
http://repub.eur.nl/pub/124697Test

المؤلفون: Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. F., Peltonen, Sirkku, 1964, Rauen, K. A., Riccardi, V., Schorry, E., Stemmer-Rachamimov, A., Stevenson, D. A., Tadini, G., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Huson, S. M., Evans, D. G., Plotkin, S. R.

المصدر: Genetics in Medicine. 23:1506-1513

مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, choroidal abnormalities, sequence variants, mutation analysis, gene, mosaicism, identification, reveals, Genetics & Heredity

الوصف: Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.

الوصول الحر: https://gup.ub.gu.se/publication/305494Test

المؤلفون: Plotkin S. R., Messiaen L., Legius E., Pancza P., Avery R. A., Blakeley J. O., Babovic-Vuksanovic D., Ferner R., Fisher M. J., Friedman J. M., Giovannini M., Gutmann D. H., Hanemann C. O., Kalamarides M., Kehrer-Sawatzki H., Korf B. R., Mautner V. -F., MacCollin M., Papi L., Rauen K. A., Riccardi V., Schorry E., Smith M. J., Stemmer-Rachamimov A., Stevenson D. A., Ullrich N. J., Viskochil D., Wimmer K., Yohay K., Anten M., Aylsworth A., Baralle D., Barbarot S., Barker F., Ben-Shachar S., Bergner A., Bessis D., Blanco I., Cassiman C., Ciavarelli P., Clementi M., Frebourg T., Gomes A., Halliday D., Helen Hanson Arvid Heiberg C. H., Joly P., Jordan J. T., Karajannis M., Kroshinsky D., Larralde M., Lazaro C., Le L., Link M., Listernick R., Mallucci C., Merker V. L., Moertel C., Mueller A., Ngeow J., Oostenbrink R., Packer R., Parry A., Peltonen J., Pichard D., Poppe B., Rezende N., Rodrigues L. O., Rosser T., Ruggieri M., Serra E., Steinke-Lange V., Stivaros S. M., Taylor A., Toelen J., Tonsgard J., Trevisson E., Upadhyaya M., Varan A., Wilson M., Wu H., Zadeh G., Huson S. M., Wolkenstein P., Evans D. G.

المساهمون: Plotkin, S. R., Messiaen, L., Legius, E., Pancza, P., Avery, R. A., Blakeley, J. O., Babovic-Vuksanovic, D., Ferner, R., Fisher, M. J., Friedman, J. M., Giovannini, M., Gutmann, D. H., Hanemann, C. O., Kalamarides, M., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. -F., Maccollin, M., Papi, L., Rauen, K. A., Riccardi, V., Schorry, E., Smith, M. J., Stemmer-Rachamimov, A., Stevenson, D. A., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Anten, M., Aylsworth, A., Baralle, D., Barbarot, S., Barker, F., Ben-Shachar, S., Bergner, A., Bessis, D., Blanco, I., Cassiman, C., Ciavarelli, P., Clementi, M., Frebourg, T., Gomes, A., Halliday, D., Helen Hanson Arvid Heiberg, C. H., Joly, P., Jordan, J. T., Karajannis, M., Kroshinsky, D., Larralde, M., Lazaro, C., Le, L., Link, M., Listernick, R., Mallucci, C., Merker, V. L., Moertel, C., Mueller, A., Ngeow, J., Oostenbrink, R., Packer, R., Parry, A., Peltonen, J., Pichard, D., Poppe, B., Rezende, N., Rodrigues, L. O., Rosser, T., Ruggieri, M., Serra, E., Steinke-Lange, V., Stivaros, S. M., Taylor, A., Toelen, J., Tonsgard, J., Trevisson, E., Upadhyaya, M., Varan, A., Wilson, M., Wu, H., Zadeh, G., Huson, S. M., Wolkenstein, P., Evans, D. G.

مصطلحات موضوعية: NF2, Neurofibromatosi, SMARCB1, Schwannomatosi, lztr1

الوصف: Purpose: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. Methods: We used a multistep process, beginning with a Delphi method involving global disease experts and subsequently involving non-neurofibromatosis clinical experts, patients, and foundations/patient advocacy groups. Results: We reached consensus on the minimal clinical and genetic criteria for diagnosing NF2 and SWN. These criteria incorporate mosaic forms of these conditions. In addition, we recommend updated nomenclature for these disorders to emphasize their phenotypic overlap and to minimize misdiagnosis with neurofibromatosis type 1. Conclusion: The updated criteria for NF2 and SWN incorporate clinical features and genetic testing, with a focus on using molecular data to differentiate the 2 conditions. It is likely that continued refinement of these new criteria will be necessary as investigators study the diagnostic properties of the revised criteria and identify new genes associated with SWN. In the revised nomenclature, the term "neurofibromatosis 2" has been retired to improve diagnostic specificity.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35674741; info:eu-repo/semantics/altIdentifier/wos/WOS:000855692500017; volume:24; issue:9; firstpage:1967; lastpage:1977; numberofpages:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3473739Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132738125; https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
https://hdl.handle.net/11577/3473739Test
https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest

المؤلفون: Abrams, A. J., Hufnagel, R. B., Rebelo, A., ZANNA, CLAUDIA, Patel, N., Gonzalez, M. A., Campeanu, I. J., Griffin, L. B., Groenewald, S., Strickland, A. V., Tao, F., Speziani, F., Abreu, L., Schule, R., LA MORGIA, CHIARA, MARESCA, ALESSANDRA, LIGUORI, ROCCO, LODI, RAFFAELE, Ahmed, Z. M., Sund, K. L., Wang, X., Krueger, L. A., Peng, Y., Prada, C. E., Prows, C. A., Schorry, E. K., Antonellis, A., Zimmerman, H. H., Abdul Rahman, O. A., Yang, Y., Downes, S. M., Prince, J., Fontanesi, F., Barrientos, A., Nemeth, A. H., CARELLI, VALERIO, Huang, T., Zuchner, S., Dallman, J. E.

المساهمون: Abrams, A.J., Hufnagel, R.B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M.A., Campeanu, I.J., Griffin, L.B., Groenewald, S., Strickland, A.V., Tao, F., Speziani, F., Abreu, L., Schule, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z.M., Sund, K.L., Wang, X., Krueger, L.A., Peng, Y., Prada, C.E., Prows, C.A., Schorry, E.K., Antonellis, A., Zimmerman, H.H., Abdul-Rahman, O.A., Yang, Y., Downes, S.M., Prince, J., Fontanesi, F., Barrientos, A., Nemeth, A.H., Carelli, V., Huang, T., Zuchner, S., Dallman, J.E.

مصطلحات موضوعية: Dominant optic atrophy, DOA, xonal peripheral neuropathy, Charcot-Marie-Tooth type 2, CMT2, hereditary neurodegenerative disorder

الوصف: Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively. In yeast, homologs of OPA1 (Mgm1) and MFN2 (Fzo1) work in concert with Ugo1, for which no human equivalent has been identified thus far. By whole-exome sequencing of patients with optic atrophy and CMT2, we identified four families with recessive mutations in SLC25A46. We demonstrate that SLC25A46, like Ugo1, is a modified carrier protein that has been recruited to the outer mitochondrial membrane and interacts with the inner membrane remodeling protein mitofilin (Fcj1). Loss of function in cultured cells and in zebrafish unexpectedly leads to increased mitochondrial connectivity, while severely affecting the development and maintenance of neurons in the fish. The discovery of SLC25A46 strengthens the genetic overlap between optic atrophy and CMT2 while exemplifying a new class of modified solute transporters linked to mitochondrial dynamics.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26168012; info:eu-repo/semantics/altIdentifier/wos/WOS:000358674100019; volume:47; issue:8; firstpage:926; lastpage:932; numberofpages:7; journal:NATURE GENETICS; info:eu-repo/grantAgreement/EC/FP7/266608; http://hdl.handle.net/11585/515677Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84938271321; https://www-nature-com.ezproxy.unibo.it/articles/ng.3354Test

الإتاحة: https://doi.org/10.1038/ng.3354Test
http://hdl.handle.net/11585/515677Test
https://www-nature-com.ezproxy.unibo.it/articles/ng.3354Test

المؤلفون: Weiss, B., Widemann, B. C., Wolters, P., Dombi, E., Vinks, A., Cantor, A., Perentesis, J., Schorry, E., Ullrich, N., Gutmann, D. H., Tonsgard, J., Viskochil, D., Korf, B., Packer, R. J., Fisher, M. J.

المصدر: Neuro-Oncology ; volume 17, issue 4, page 596-603 ; ISSN 1522-8517 1523-5866

الإتاحة: https://doi.org/10.1093/neuonc/nou235Test
http://academic.oup.com/neuro-oncology/article-pdf/17/4/596/6880183/nou235.pdfTest

المؤلفون: Reiter-Purtill, J., Schorry, E. K., Lovell, A. M., Vannatta, K., Gerhardt, C. A., Noll, R. B.

المصدر: Journal of Pediatric Psychology ; volume 33, issue 4, page 422-434 ; ISSN 0146-8693 1465-735X

مصطلحات موضوعية: Developmental and Educational Psychology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1093/jpepsy/jsm077Test
http://academic.oup.com/jpepsy/article-pdf/33/4/422/4859627/jsm077.pdfTest

المؤلفون: Wedig, K E, Kogan, J, Schorry, E K, Whitsett, J A

المصدر: Journal of Perinatology ; volume 26, issue 6, page 371-374 ; ISSN 0743-8346 1476-5543

مصطلحات موضوعية: Obstetrics and Gynecology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1038/sj.jp.7211508Test
https://www.nature.com/articles/7211508.pdfTest
https://www.nature.com/articles/7211508Test

المؤلفون: Arroyo, M., Wong, B., Fuller, C., Schorry, E., Ulm, E., Tian, C.

المصدر: Neuromuscular Disorders ; volume 28, page S85 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2018.06.218Test
https://api.elsevier.com/content/article/PII:S0960896618307818?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896618307818?httpAccept=text/plainTest

المؤلفون: Hanemann, CO, Wolters, PL, Martin, S, Merker, VL, Tonsgard, JH, Soloman, SE, Baldwin, A, Bergner, AL, Walsh, K, Thompson, HL, Gardner, KL, HIngtgen, CM, Schorry, E, Dudley, WN, Franklin, B

وصف الملف: S4 - S12

العلاقة: http://hdl.handle.net/10026.1/6501Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000002927Test
http://hdl.handle.net/10026.1/6501Test

المؤلفون: Johnson, K. J., Fisher, M. J., Listernick, R. L., North, K. N., Schorry, E. K., Viskochil, D., Weinstein, M., Rubin, J. B., Gutmann, D. H.

المصدر: Familial Cancer ; volume 11, issue 4, page 653-656 ; ISSN 1389-9600 1573-7292

مصطلحات موضوعية: Cancer Research, Genetics (clinical), Oncology, Genetics

الإتاحة: https://doi.org/10.1007/s10689-012-9549-zTest