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Article

Spinal muscular atrophy among US Hutterites: Phenotype variability in the setting of conserved ancestral haplotype and 4 SMN2 copies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2026

Butchbach Matthew E R, Kale Jennifer J, Simeone Sarah D, Chen Jin Yun Helen, Anderson Rebecca L, Prichina Adriana Y, Del Gaudio Daniela, Stabley Deborah L, Holbrook Jennifer, Culcea Eliad, Ober Carole, Swoboda Kathryn J

Abstract excerpt

PURPOSE: Ideal timing and treatment in asymptomatic newborns with 4 SMN2 copies remains controversial. We examined phenotypic variability among the Hutterite population with spinal muscular atrophy (SMA) and higher SMN2 dosage. METHODS: We enrolled individuals with SMA and children born to couples with 1 copy of SMN1 in South Dakota and Montana Hutterite communities in a natural history study that included a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41691542
DOI: 10.1016/j.gim.2026.102535
PMCID: PMC13449057

Genes

SMN2
SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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