AIMS: To describe the occurrence of spinal muscular atrophy (SMA) in childhood; to evaluate if any of the genes in the SMA region on chromosome 5q13 correlates with disease severity; to make genotype-phenotype correlations; to evaluate the variability of different disease alleles in carriers and the sensitivity of multiplex ligation-dependent probe amplification (MLPA) for detecting carriers. METHODS: In a population-based study from Western Sweden MLPA was used to determine the copy-numbers of several genes in the SMA region (SMN1, SMN2, BIRC1, GTF2H2 and SERF1A) in SMA-patients and their parents. RESULTS: We estimated the incidence of SMN1-related SMA in childhood at 1 in 11 800 live births and confirmed the relationship between the number of SMN2 copies and the severity of disease. No other direct relationships were found. All but one of the analysed parents were confirmed as carriers by MLPA analysis. A total of at least 30 different disease alleles were identified and no specific disease allele represented more than 15% of the total. CONCLUSION: The childhood incidence of SMA in the Swedish population is around 1 in 12,000 live births and it is unlikely that there is any founder effect involved in SMA in western Sweden.
AIMS: To describe the occurrence of spinal muscular atrophy (SMA) in childhood; to evaluate if any of the genes in the SMA region on chromosome 5q13 correlates with disease severity; to make genotype-phenotype correlations; to evaluate the variability of different disease alleles in carriers and the sensitivity of multiplex ligation-dependent probe amplification (MLPA) for detecting carriers. METHODS: In a population-based study from Western Sweden MLPA was used to determine the copy-numbers of several genes in the SMA region (SMN1, SMN2, BIRC1, GTF2H2 and SERF1A) in SMA-patients and their parents. RESULTS: We estimated the incidence of SMN1-related SMA in childhood at 1 in 11 800 live births and confirmed the relationship between the number of SMN2 copies and the severity of disease. No other direct relationships were found. All but one of the analysed parents were confirmed as carriers by MLPA analysis. A total of at least 30 different disease alleles were identified and no specific disease allele represented more than 15% of the total. CONCLUSION: The childhood incidence of SMA in the Swedish population is around 1 in 12,000 live births and it is unlikely that there is any founder effect involved in SMA in western Sweden.
Authors: Philippe Corcia; Caroline Ingre; Helene Blasco; Rayomand Press; Julien Praline; Catherine Antar; Charlotte Veyrat-Durebex; Yves-Olivier Guettard; William Camu; Peter M Andersen; Patrick Vourc'h; Christian R Andres Journal: Eur J Hum Genet Date: 2012-01-25 Impact factor: 4.246
Authors: Santiago Zuluaga-Sanchez; Megan Teynor; Christopher Knight; Robin Thompson; Thomas Lundqvist; Mats Ekelund; Annabelle Forsmark; Adrian D Vickers; Andrew Lloyd Journal: Pharmacoeconomics Date: 2019-06 Impact factor: 4.981
Authors: Renske I Wadman; W Ludo van der Pol; Wendy Mj Bosboom; Fay-Lynn Asselman; Leonard H van den Berg; Susan T Iannaccone; Alexander Fje Vrancken Journal: Cochrane Database Syst Rev Date: 2020-01-06
Authors: Markus Riessland; Anna Kaczmarek; Svenja Schneider; Kathryn J Swoboda; Heiko Löhr; Cathleen Bradler; Vanessa Grysko; Maria Dimitriadi; Seyyedmohsen Hosseinibarkooie; Laura Torres-Benito; Miriam Peters; Aaradhita Upadhyay; Nasim Biglari; Sandra Kröber; Irmgard Hölker; Lutz Garbes; Christian Gilissen; Alexander Hoischen; Gudrun Nürnberg; Peter Nürnberg; Michael Walter; Frank Rigo; C Frank Bennett; Min Jeong Kye; Anne C Hart; Matthias Hammerschmidt; Peter Kloppenburg; Brunhilde Wirth Journal: Am J Hum Genet Date: 2017-01-26 Impact factor: 11.025
Authors: Silvina Noemi Contreras-Capetillo; Hugo Leonid Gallardo Blanco; Ricardo Martin Cerda-Flores; José Lugo-Trampe; Iris Torres-Muñoz; Antonio Bravo-Oro; Carmen Esmer; Laura Ella Martínez DE Villarreal Journal: Exp Ther Med Date: 2015-04-20 Impact factor: 2.447