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1.	Wright, NJ, et al. (author) Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study 2021 In: Lancet (London, England). - 1474-547X. ; 398:10297, s. 325-339 Journal article (peer-reviewed)
2.	Abbafati, Cristiana, et al. (author) 2020 Journal article (peer-reviewed)
3.	Bakhit, Yousuf, et al. (author) Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan 2023 In: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 111 Journal article (peer-reviewed)abstract PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homo-zygous mutations in this gene are associated with an early onset of symptoms. Bradykinesia, tremors, and rigidity are common features, while dystonia, motor fluctuation, and non-motor symptoms occur in a lower percentage of cases and usually respond well to levodopa. We investigated 14 individuals with parkinsonism and eleven symptom-free siblings from three consanguineous Sudanese families, two of them multigenerational, using a custom gene panel screening 34 genes, 27 risk variants, and 8 candidate genes associated with parkinsonism. We found a known pathogenic nonsense PINK1 variant (NM_032409.3:c.1366C>T; p.(Gln456)), a novel pathogenic single base duplication (NM_032409.3:c.1597dup; p.(Gln533Profs29)), and another novel pathogenic insertion (NM_032409.3:c.1448_1449ins[1429_1443; TTGAG]; p.(Arg483Serfs*7)). All variants were homozygous and co -segregated in all affected family members. We also identified intrafamilial and interfamilial phenotypic het-erogeneity associated with PINK1 mutations in these Sudanese cases, possibly reflecting the nature of the Sudanese population that has a large effective population size, which suggests a higher possibility of novel findings in monogenic and polygenic diseases in Sudan.

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Johansson, Lars (1); Becker, K. (1); Hamilton, A. (1); Liu, Y. (1); Martin, B. (1); Saleem, M. (1); show more...; Sanchez, A. (1); Sanchez, J. (1); Shaw, K. (1); Silva, J. (1); Yao, Y. (1); Ahmed, H. (1); Wester, T. (1); Jones, M. (1); Malik, S. (1); Jain, S. (1); Huang, T. (1); Ivanov, M. (1); Guerin, F. (1); Sevdalis, N. (1); Williams, R. (1); Sulo, Gerhard (1); Lee, S (1); Butler, M (1); Ali, M (1); Douiri, A (1); Hameed, S (1); Kumar, V (1); Shaheen, AA (1); Wang, JY (1); Davies, J (1); Hamidi, N. (1); Wang, P. (1); Hassankhani, Hadi (1); Liu, Yang (1); Sidler, D (1); Ali, Muhammad (1); Eroglu, E (1); Mitchell, Philip B (1); Johnson, S. (1); King, S. (1); McKee, Martin (1); Madotto, Fabiana (1); Roberts, R. (1); Abolhassani, Hassan (1); Rezaei, Nima (1); Han, YJ (1); Lee, JY (1); Castro, Franz (1); Harper, L (1); show less...

University: Uppsala University (2); Karolinska Institutet (2); Högskolan Dalarna (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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