Resumen

GONZALEZ-DOMINGUEZ, Carlos Alberto; LOPEZ-VALDEZ, Jaime; MARTINEZ-DUNCKER RAMIREZ, Iván  y  SALINAS-MARIN, Roberta. Analysis of the c.187 C> T mutation in ATP6V0A2 by PCR-ARMS. TIP [online]. 2020, vol.23, e20200262.  Epub 05-Mar-2021. ISSN 1405-888X.  https://doi.org/10.22201/fesz.23958723e.2020.0.262.

Congenital disorders of glycosylation (CDG) are rare hereditary metabolic diseases (EPOF) that occur as a result of mutations in the genes coding for proteins involved direct or indirectly in this process. Autosomal Recessive Cutis Laxa disease type II-A (ARCL2A) is a type of CDG (ATP6V0A2-CDG) caused by mutations in ATP6V0A2, which codes for the a2 subunit of the v0 domain of a vacuolar ATPase that has the function of transporting H+ through cell membranes, regulating pH in cells compartments, including Golgi acidification. In 2014, our research group reported the first two cases of ATP6V0A2-CDG in Mexico. In this work, a methodology was established to identify carriers of the c.187 C> T mutation in ATP6V0A2 by PCR-ARMS.

Palabras llave : CDG; cutis laxa; ATP6V0A2; ARCL2A; PCR-ARMS.