Genes, Vol. 12, Pages 744: Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease

We describe the case of a male patient of 8 months of age with silvery hair, tan skin color, hypotonia, alterations in neurodevelopment, presence of seizures, and low values of plasma ceruloplasmin. Trio-whole-exome sequencing (Trio-WES) analysis, plasma proteome screening, and blood cell migration assays were carried out. Trio-WES revealed a hemizygous change c.4190C > T (p.S1397F) in exon 22 of the ATP7A gene. Compared with his parents and with child controls, 11 plasma proteins were upregulated and 59 downregulated in the patient. According to their biological processes, 42 (71.2%) of downregulated proteins had a participation in cellular transport. The immune system process was represented by 35 (59.3%) downregulated proteins (p = 9.44 × 10–11). Additional studies are necessary to validate these findings as hallmarks of MD.

Source: Genes - May 14, 2021 Category: Genetics & Stem Cells Authors: Margarita L. Martinez-Fierro Griselda A. Cabral-Pacheco Idalia Garza-Veloz Jesus Acu ña-Quiñones Laura E. Martinez-de-Villarreal Marisol Ibarra-Ramirez Joke Beuten Samantha E. Sanchez-Guerrero Laura Villarreal-Martinez Ivan Delgado-Enciso Iram P. Rodrig Tags: Article Source Type: research