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1.	Lopponen, T, et al. (author) Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland 2003 In: Laryngoscope. - 1531-4995. ; 113:10, s. 1758-1763 Journal article (peer-reviewed)abstract Objective: The aims of the present study were to evaluate the role of the gap junction protein beta-2 gene (GJB2), encoding connexin 26 (Cx26), in children with moderate to profound prelingual nonsyndromic sensorineural hearing impairment (HI) and to investigate the carrier frequencies of the GJB2 gene mutations in a control population in Northern Finland. Methods: Mutation analysis was performed by direct sequencing and carrier detection by conformation sensitive gel electrophoresis further confirmed by direct sequencing. Results: Cx26 mutations were found in 15 of 71 (21.1%) (67 families) children with HI. Homozygosity for the mutation 35delG was shown to be the cause of HI in 13 of 15 (86.7%) children. Homozygosity for the M34T genotype was found in one child, and compound heterozygosity for the M34T/V37I genotype was found in another. Five families of those with suspected familial HI (29.4%) and six families out of those with sporadic HI (12.0%) had a homozygous or compound heterozygous mutation. The carrier frequency for the mutation 35delG was 1 of 78 (4 of 313) and that for the M34T was I of 26 (12 of 313). Conclusion: 35deIG/35deIG genotype was found to be a significant cause of moderate to profound prelingual. nonsyndromic sensorineural HI in Northern Finland. M34T/M34T genotype was seen in only one child, but the carrier frequency of the M34T allele was about three times higher than that of the 35delG mutation.
2.	Rahikkala, E, et al. (author) Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 21:10, s. 2355-2363 Journal article (peer-reviewed)

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Uusimaa, J. (2); Vaisanen, ML (2); Wang, X. (1); Lindholm, P (1); Schmidt, WM (1); Palotie, A (1); show more...; Koivunen, P (1); Westermann, J. (1); Kokkonen, H. (1); Mäki-Torkko, Elina (1); Weiss, S (1); Moilanen, J (1); Bernert, G (1); Leisti, J (1); Lopponen, H (1); Plomp, AS (1); Aaltonen, L (1); Yang, YP (1); Vieira, P (1); Tuominen, H. (1); Hinttala, R (1); Kurki, MI (1); Kuismin, O (1); Potocki, L (1); Lopponen, T (1); Luotonen, M (1); Allinen, M (1); Vayrynen, M (1); van Koningsbruggen, ... (1); Lewis, AM (1); Rahikkala, E (1); Myllykoski, M (1); Nayebzadeh, N (1); Bittner, RE (1); show less...

University: Lund University (1); Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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