Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

doi:10.1136/jmedgenet-2017-105172

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Article

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

Journal of medical genetics - 1 Jun 2018

Kutkowska-Kaźmierczak Anna, Rydzanicz Małgorzata, Chlebowski Aleksander, Kłosowska-Kosicka Kamila, Mika Adriana, Gruchota Jakub, Jurkiewicz Elżbieta, Kowalewski Cezary, Pollak Agnieszka, Stradomska Teresa Joanna, Kmieć Tomasz, Jakubowski Rafał, Gasperowicz Piotr, Walczak Anna, Śladowski Dariusz, Jankowska-Steifer Ewa, Korniszewski Lech, Kosińska Joanna, Obersztyn Ewa, Nowak Wieslaw, Śledziński Tomasz, Dziembowski Andrzej, Płoski Rafał

Abstract excerpt

BACKGROUND: Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES: To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of...

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PMID: 29496980
DOI: 10.1136/jmedgenet-2017-105172

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ELOVL1

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Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.PMID 29496980Read ↗

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