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Article

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

European journal of human genetics : EJHG - 1 Oct 2011

Chong Jessica X, Oktay A Afşin, Dai Zunyan, Swoboda Kathryn J, Prior Thomas W, Ober Carole

Abstract excerpt

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...

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Share to Founder Effect
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Share to Survival of Motor Neuron 1 Protein

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Source

Open in PubMed Open full text

Identifiers

PMID: 21610747
DOI: 10.1038/ejhg.2011.85
PMCID: PMC3190247

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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