ArticleEuropean journal of human genetics : EJHG2011
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.PloS one · 2018Trial
- Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.Journal of neuromuscular diseases · 2026Article
- Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.medRxiv : the preprint server for health sciences · 2024Article
- What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.International journal of molecular sciences · 2021Article
- Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Orphanet journal of rare diseases · 2017Review
- An Unbiased Estimator of Gene Diversity with Improved Variance for Samples Containing Related and Inbred Individuals of any Ploidy.G3 (Bethesda, Md.) · 2017Article
- Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.Molecular genetics & genomic medicine · 2016Article
- Disclosure of genetic research results to members of a founder population.Journal of genetic counseling · 2014Article
- Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.PloS one · 2014Article
- Estimating the human mutation rate using autozygosity in a founder population.Nature genetics · 2012Article
- A population-based study of autosomal-recessive disease-causing mutations in a founder population.American journal of human genetics · 2012Article
- SMN-inducing compounds for the treatment of spinal muscular atrophy.Future medicinal chemistry · 2012Review
- The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.Human molecular genetics · 2012Article
- Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals.Genetic epidemiology · 2012Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive (AR) neuromuscular disease that is one of the most common lethal genetic disorders in children, with carrier frequencies as high as ∼1 in 35 in US Whites. As part of our genetic studies in the Hutterites from South Dakota, we identified a large 22 Mb run of homozygosity, spanning the SMA locus in an affected child, of which 10 Mb was also homozygous in three affected Hutterites from Montana, supporting a single founder origin for the mutation. We developed a haplotype-based method for identifying carriers of the SMN1 deletion that leveraged existing genome-wide SNP genotype data for ∼1400 Hutterites. In combination with two direct PCR-based assays, we identified 176 carriers of the SMN1 deletion, one asymptomatic homozygous adult and three carriers of a de novo deletion. This corresponds to a carrier frequency of one in eight (12.5%) in the South Dakota Hutterites, representing the highest carrier frequency reported to date for SMA and for an AR disease in the Hutterite population. Lastly, we show that 26 SNPs can be used to predict SMA carrier status in the Hutterites, with 99.86% specificity and 99.71% sensitivity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.