Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations | Zendy

Kiely Clare | Zendy; Devaney Deirdre | Zendy; Fischer Judith | Zendy; Lenane Patricia | Zendy; Irvine Alan D. | Zendy

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Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations

Author(s) -

Kiely Clare,

Devaney Deirdre,

Fischer Judith,

Lenane Patricia,

Irvine Alan D.

Publication year - 2014

Publication title -

pediatric dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.542

H-Index - 73

eISSN - 1525-1470

pISSN - 0736-8046

DOI - 10.1111/pde.12320

Subject(s) - congenital ichthyosis , ichthyosis , medicine , mutation , mendelian inheritance , genetics , population , dyskeratosis , omim : online mendelian inheritance in man , autosomal recessive inheritance , dermatology , pediatrics , hyperkeratosis , biology , gene , phenotype , environmental health

Ichthyosis prematurity syndrome ( IPS ; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.

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