SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly.

Am J Med Genet AJul 15, 2026 (epub)
Case ReportMedical GeneticsPediatricsCardiologyOpen access

Jessica C Ding, Benjamin A Sempowski, Lola Zerbib et al.

✦ AI-curated · Sources linked

Case in brief

A patient with complex congenital heart disease developed refractory chylothorax after surgery. Lymphatic imaging showed abnormal intercostal lymphatic perfusion consistent with central conducting lymphatic anomaly (CCLA) and suggestive of a RASopathy. Genetic testing identified a SHOC2 p.(Ala308Val) variant of uncertain significance. Functional studies supported pathogenicity: zebrafish expressing the variant developed pericardial edema, caudal plexus cystic malformations, and thoracic duct dilation. Trametinib treatment did not improve the patient’s condition; immunoblot findings suggested a possible non-canonical mTOR mechanism.

What made this case unusual

The case links a SHOC2 variant to CCLA, with functional evidence of lymphatic malformations and findings suggesting a non-canonical mTOR mechanism rather than the expected RAS-MAPK pathway.

Diagnostic / clinical pearl

In refractory postoperative chylothorax, lymphatic imaging can reveal CCLA; genetic and functional evaluation may help assess a variant of uncertain significance when a RASopathy is suspected.

Source

PubMed · PMID 42454412Free full text on PubMed Central

Published in Am J Med Genet A. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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