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Year Number of Results
1982 1
1983 1
1985 2
1987 1
1988 2
2000 1
2002 2
2004 1
2005 2
2006 1
2007 1
2009 1
2010 4
2011 1
2012 5
2013 4
2014 5
2015 2
2016 6
2017 4
2018 5
2019 5
2020 7
2021 4
2022 5
2023 5
2024 2

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72 results

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Page 1
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y, Schneeberger PE, Fernández-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE. El Ghaleb Y, et al. Brain. 2021 Aug 17;144(7):2092-2106. doi: 10.1093/brain/awab101. Brain. 2021. PMID: 33704440 Free PMC article.
The de novo p.(Ile860Asn) variant, changing the same amino acid residue, was detected in a patient with severe developmental delay and seizures. In two additional individuals with global developmental delay, hypotonia, and epilepsy, the variants p.(Ile1306Thr) and …
The de novo p.(Ile860Asn) variant, changing the same amino acid residue, was detected in a patient with severe developmental delay an …
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Holling T, Lisfeld J, Johannsen J, Matschke J, Song F, Altmeppen HC, Kutsche K. Holling T, et al. Hum Mutat. 2022 Sep;43(9):1224-1233. doi: 10.1002/humu.24397. Epub 2022 May 11. Hum Mutat. 2022. PMID: 35510366
We report a 2-year-old patient and his mother carrying the heterozygous TNNT1 variant c.194A>C/p.(Asp65Ala) that occurred de novo in the mother. Both had muscle hypotrophy and muscle weakness. ...The previously reported TnT1-E104V and TnT1-L96P mutants showed reduced or …
We report a 2-year-old patient and his mother carrying the heterozygous TNNT1 variant c.194A>C/p.(Asp65Ala) that occurred de novo …
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling T, Nampoothiri S, Tarhan B, Schneeberger PE, Vinayan KP, Yesodharan D, Roy AG, Radhakrishnan P, Alawi M, Rhodes L, Girisha KM, Kang PB, Kutsche K. Holling T, et al. Eur J Hum Genet. 2022 Apr;30(4):439-449. doi: 10.1038/s41431-021-01033-2. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35013551 Free PMC article.
We expand the phenotypic spectrum associated with biallelic SLC5A6 variants affecting function by reporting five individuals from three families with motor neuropathies. We identified the homozygous variant c.1285 A > G [p.(Ser429Gly)] in three affected siblings and a s …
We expand the phenotypic spectrum associated with biallelic SLC5A6 variants affecting function by reporting five individuals from three fami …
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
von Elsner L, Chai G, Schneeberger PE, Harms FL, Casar C, Qi M, Alawi M, Abdel-Salam GMH, Zaki MS, Arndt F, Yang X, Stanley V, Hempel M, Gleeson JG, Kutsche K. von Elsner L, et al. Brain. 2022 May 24;145(4):1551-1563. doi: 10.1093/brain/awab403. Brain. 2022. PMID: 34694367 Free PMC article.
The two unrelated Patients 1 and 2 with loss-of-function variants showed developmental delay, intellectual disability, and no speech, while three siblings with the c.494_496delAAG (p.Glu165del) variant had borderline to mild intellectual disability. ...FRA10AC1 transcripts …
The two unrelated Patients 1 and 2 with loss-of-function variants showed developmental delay, intellectual disability, and no speech, while …
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Dahimene S, von Elsner L, Holling T, Mattas LS, Pickard J, Lessel D, Pilch KS, Kadurin I, Pratt WS, Zhulin IB, Dai H, Hempel M, Ruzhnikov MRZ, Kutsche K, Dolphin AC. Dahimene S, et al. Brain. 2022 Aug 27;145(8):2721-2729. doi: 10.1093/brain/awac081. Brain. 2022. PMID: 35293990 Free PMC article.
Here we report biallelic variants in CACNA2D1, encoding the alpha2delta-1 protein, in two unrelated individuals showing a developmental and epileptic encephalopathy. Patient 1 has a homozygous frameshift variant c.818_821dup/p.(Ser275Asnfs*13) resulting in nonsense-mediate …
Here we report biallelic variants in CACNA2D1, encoding the alpha2delta-1 protein, in two unrelated individuals showing a developmental and …
Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome.
Mühlstädt K, De Backer J, von Kodolitsch Y, Kutsche K, Muiño Mosquera L, Brickwedel J, Girdauskas E, Mir TS, Mahlmann A, Tsilimparis N, Staebler A, Schoof L, Seidel H, Berger J, Bernhardt AM, Blankenberg S, Kölbel T, Detter C, Szöcs K, Kaemmerer H. Mühlstädt K, et al. J Clin Med. 2019 Nov 29;8(12):2079. doi: 10.3390/jcm8122079. J Clin Med. 2019. PMID: 31795342 Free PMC article.

Results: In Loeys-Dietz compared to Marfan syndrome, a patent ductus arteriosus (p = 0.014) was more prevalent, the craniofacial score was higher (p < 0.001), the systemic score lower (p < 0.001), and mitral valve prolapse less frequent (p = 0.00

…
Results: In Loeys-Dietz compared to Marfan syndrome, a patent ductus arteriosus (p = 0.014) was more prevalent, the craniofacial scor …
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
Stark VC, Hensen F, Kutsche K, Kortüm F, Olfe J, Wiegand P, von Kodolitsch Y, Kozlik-Feldmann R, Müller GC, Mir TS. Stark VC, et al. Genes (Basel). 2020 Jul 15;11(7):799. doi: 10.3390/genes11070799. Genes (Basel). 2020. PMID: 32679894 Free PMC article.
Patients with cys-missense more frequently developed aortic dilatation (p = 0.03) requiring medication (p = 0.003), tricuspid valve prolapse (p = 0.03), and earlier onset of myopia (p = 0.02) than those with other missense variants. Missense variants c …
Patients with cys-missense more frequently developed aortic dilatation (p = 0.03) requiring medication (p = 0.003), tricuspid …
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
Bierhals T, Korenke GC, Uyanik G, Kutsche K. Bierhals T, et al. Eur J Med Genet. 2013 Jun;56(6):325-30. doi: 10.1016/j.ejmg.2013.03.009. Epub 2013 Apr 3. Eur J Med Genet. 2013. PMID: 23562994 Review.
Sequencing of the TSEN2 gene detected the novel missense mutation c.934G > A (p.G312R) on one allele and the first nonsense mutation c.691C > T (p.Q231*) on the second allele. ...
Sequencing of the TSEN2 gene detected the novel missense mutation c.934G > A (p.G312R) on one allele and the first nonsense mutati …
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Harms FL, Alawi M, Amor DJ, Tan TY, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M. Harms FL, et al. Am J Med Genet A. 2018 Feb;176(2):470-476. doi: 10.1002/ajmg.a.38569. Epub 2017 Dec 22. Am J Med Genet A. 2018. PMID: 29271604
We present two boys with Noonan syndrome and the identical de novo RAF1 missense variant c.1082G>C/p.(Gly361Ala) affecting the CR3, but located outside the kinase activation segment. The p.(Gly361Ala) mutation has been identified as a RAF1 allele conferring resis …
We present two boys with Noonan syndrome and the identical de novo RAF1 missense variant c.1082G>C/p.(Gly361Ala) affecting the CR3 …
72 results