Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia-Lymphedema Syndrome 2.

Am J Med Genet AApr 16, 2026 (epub)
Case ReportMedical Genetics

Selinda Mascarenhas, Yashavi Gupta, Akhil K A et al.

✦ AI-curated · Sources linked

Case in brief

A 15-month-old male presented with peripheral lymphedema, facial dysmorphism, camptodactyly, and generalized hypotonia. Genetic testing identified a homozygous splice site variant, c.12479+3A>G, in the FAT4 gene, confirmed by RT-PCR showing aberrant splicing. This case adds to the understanding of Hennekam lymphangiectasia-lymphedema syndrome 2, indicating a milder phenotype associated with this variant.

Diagnostic / clinical pearl

Clinicians should consider genetic testing for FAT4 variants in patients presenting with symptoms of Hennekam lymphangiectasia-lymphedema syndrome, as this may reveal novel mutations and inform prognosis.

Source

PubMed · PMID 41992670

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 It is not peer reviewed and is not a substitute for the original article.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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