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Article

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

American journal of medical genetics. Part A - 1 Sept 2026

Mascarenhas Selinda, Gupta Yashavi, K A Akhil, Pande Shruti, Shaikh Huzail, Girisha Katta Mohan, Radhakrishnan Periyasamy, Shukla Anju

Abstract excerpt

Hennekam lymphangiectasia-lymphedema syndrome (HKLLS) is an autosomal recessive disorder, caused by biallelic variants in CCBE1, FAT4, and ADAMTS3 genes. We herein report a 15-month-old male with peripheral lymphedema, facial dysmorphism, camptodactyly and generalized hypotonia. Solo exome sequencing revealed a homozygous splice site variant, c.12479+3A>G in intron 14 of FAT4 (NM_001291303.3). Reverse...

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Identifiers

PMID: 41992670
DOI: 10.1002/ajmg.a.70166

Genes

FAT4
ADAMTS3
CCBE1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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