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ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
Author(s) -
Shehata Laila,
Simeonov Dimitre R.,
Raams Anja,
Wolfe Lynne,
Vanderver Adeline,
Li Xueli,
Huang Yan,
Garner Shan,
Boerkoel Cornelius F.,
Thurm Audrey,
Herman Gail E.,
Tifft Cynthia J.,
He Miao,
Jaspers Nicolaas G.J.,
Gahl William A.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36709
Subject(s) - microcephaly , medicine , cognitive decline , progeria , dna repair , intellectual disability , nucleotide excision repair , premature aging , biology , genetics , pathology , disease , dementia , pediatrics , dna , gene
Mutations in ERCC6 are associated with growth failure, intellectual disability, neurological dysfunction and deterioration, premature aging, and photosensitivity. We describe siblings with biallelic ERCC6 mutations (NM_000124.2:c. [543 + 4delA];[2008C > T]) and brain hypomyelination, microcephaly, cognitive decline, and skill regression but without photosensitivity or progeria. DNA repair assays on cultured skin fibroblasts confirmed a defect of transcription‐coupled nucleotide excision repair and increased ultraviolet light sensitivity. This report expands the disease spectrum associated with ERCC6 mutations. © 2014 Wiley Periodicals, Inc.