Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.

Autor: La Serna-Infantes J; Department of Cytogenetics y Cytopathology, Hospital Nacional Guillermo Almenara, La Victoria, Lima, Peru., Pastor MC; Department of Genetic & Inborn Errors of Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Peru., Trubnykova M; Department of Genetic & Inborn Errors of Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Peru., Velásquez FC; Department of Genetic & Inborn Errors of Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Peru., Sotomayor FV; Department of Genetic & Inborn Errors of Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Peru., Barriga HA; Department of Genetic & Inborn Errors of Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Peru. Electronic address: habarca@insn.gob.pe.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2018 Jul; Vol. 61 (7), pp. 388-392. Date of Electronic Publication: 2018 Feb 05.
DOI: 10.1016/j.ejmg.2018.02.004
Abstrakt: Trichothiodystrophy type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like intellectual disability, ichthyotic skin and short stature, caused by a homozygous mutation in MPLKIP gene. Glutaric aciduria type 3 is caused by a homozygous mutation in SUGCT gene with no distinctive phenotype. Both genes are localized on chromosome 7 (7p14). We report an 8-year-old female with short stature, microcephaly, development delay, intellectual disability and hair characterized for dark, short, coarse, sparse and brittle associated to classical trichorrhexis microscopy pattern. Chromosome microarray analysis showed a 125 kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis, highlighting the contribution and importance of molecular technologies on diagnosis of rare genetic conditions.
(Copyright © 2018 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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