EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction

Francesca Palumbo; Cristina Moglia; Alessandro Romano; Alessandra Tessa; Antonio Canosa; Andrea Calvo; Salvatore Gallone

doi:10.1002/ajmg.a.63808

July 4, 2024American Journal of Medical Genetics Part A

EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction

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Key Points

Identification of an EMILIN1 gene variant links this extracellular matrix alteration to polyneuropathy, language impairment, and motor dysfunction across affected family members.
Genetic analysis evaluates sequence alterations in EMILIN1, revealing direct co-segregation with severe motor dysfunction and language impairment across the evaluated pedigree.
Identification of the EMILIN1 variant highlights the potential role of microfibril alterations in polyneuropathy, calling for expanded genetic screening in unexplained neuropathies.

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Implication

Genetic analysis reveals an EMILIN1 gene variant in patients with polyneuropathy and motor dysfunction, suggesting a novel role in neurodevelopmental impairment.

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Palumbo et al. (2024) studied this question.

synapsesocial.com/papers/68e615e9b6db6435875a8bf9 https://doi.org/10.1002/ajmg.a.63808

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EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction

Key Points

No abstract yet

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Implication

Discussion

Cite This Study

EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction

Key Points

No abstract yet

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Implication

Discussion

Cite This Study

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