A Rare Case of Cystic Hygroma and Familial Nystagmus in a Newborn with SHOC2 Gene Mutation

A Rare Case of Cystic Hygroma and Familial Nystagmus in a Newborn with SHOC2 Gene Mutation

Cystic hygroma (CH) is a lymphatic malformation commonly associated with various genetic disorders, including RASopathies-syndromes caused by mutations in the RAS-MAPK signaling pathway. We present a neonate referred to our center due to CH and dysmorphic facial features. During follow-up, intervent...

Full description

Saved in:
Bibliographic Details
Main Authors: Suzan Süncak, Filiz Hazan, Coşkun Armağan, Ceren Yılmaz Uzman, Semra Gürsoy, Özlem Giray Bozkaya
Format: Article
Language:English
Published: Galenos Publishing House 2025-08-01
Series:Journal of Behçet Uz Children's Hospital
Subjects:
shoc2
cystic hygroma
noonan-like syndrome with loose anagen hair
ser2gly
Online Access:https://behcetuzdergisi.com/articles/a-rare-case-of-cystic-hygroma-and-familial-nystagmus-in-a-newborn-with-lessemgreatershoc2lessemgreater-gene-mutation/doi/jbuch.galenos.2025.95770
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Cystic hygroma (CH) is a lymphatic malformation commonly associated with various genetic disorders, including RASopathies-syndromes caused by mutations in the RAS-MAPK signaling pathway. We present a neonate referred to our center due to CH and dysmorphic facial features. During follow-up, interventricular septal hypertrophy and nystagmus were identified. Molecular analysis revealed a pathogenic c.4A>G (p.Ser2Gly) variant in the SHOC2 gene. This mutation is associated with a rare subtype of RASopathies known as Noonan-like syndrome with loose anagen hair. Although four additional male relatives also exhibited nystagmus, sequencing of the FRMD7 gene and whole-exome analysis did not reveal any other pathogenic variants associated with nystagmus, highlighting the clinical complexity of the case. This report emphasizes the importance of considering the possibility of dual diagnoses in cases presenting with complex clinical features. It also underscores the value of prioritizing multigene panel testing in patients with overlapping phenotypes among RASopathy subgroups, where phenotypic distinctions remain unclear.
ISSN:2822-4469

Similar Items