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Article

First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.

American journal of medical genetics. Part A - 1 Jun 2021

Gentile Mattia, Fanelli Tiziana, Lepri Francesca Romana, Gentile Angela, Orsini Paola, Volpe Paolo, Novelli Antonio, Ficarella Romina

Abstract excerpt

RASopathies are a group of syndromes with partially overlapping clinical features caused by germline mutations of the RAS/MAPK signaling pathway genes. The most common disorder is Noonan syndrome (NS; MIM 163950). We report the first prenatal case of NS with SOS2 (NM_006939.4) mutation in a euploid fetus with a severe increase in nuchal translucency (NT > 12 mm). Trio-based custom next-generation sequencing...

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Identifiers

PMID: 33750022
DOI: 10.1002/ajmg.a.62180

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