Molecular characterization using exome sequencing of two probands with the undiagnosed developmental delay from Central Brazil
DOI:
https://doi.org/10.53660/CONJ-1075-Q16Palavras-chave:
SOS1, PTPN11, WES, Síndrome de Noonan, Atraso no desenvolvimentoResumo
A síndrome de Noonan (SN) é uma doença autossômica dominante heterogênea causada por mutações na linha germinativa em genes pertencentes à via RAS-MAPK. O objetivo deste estudo foi relatar dois casos de pacientes com atraso de desenvolvimento e características sindrômicas do Brasil Central com diagnóstico de SN, por meio do sequenciamento de exoma usando um painel de genes. A mutação da linha germinativa em genes que participam da via de sinalização RAS-MAPK está associada a distúrbios de desenvolvimento que compartilham características clínicas particulares, como dismorfismos craniofaciais, defeitos cardíacos congênitos, anormalidades musculoesqueléticas e oculares e comprometimento neurocognitivo. O sequenciamento do exoma através do painel de genes da deficiência intelectual foi uma abordagem eficaz para identificar mutações patogênicas de novo nos genes SOS1 e PTPN11 responsáveis pela síndrome de Noonan e foi um método eficiente para direcionar o manejo clínico adequado e melhor acompanhamento dos probandos e suas famílias.
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