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Article

Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.

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

Rashidi Kiana, Modi Bhavi P, Richmond Phillip A, Mangino Massimo, Byres Loryn, McDonald Cassie, Dalmann Joshua, Samra Simran, Bel Kate L Del, Lehman Anna, Zambonin Jessica L, Turvey Stuart E

Abstract excerpt

Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor-like domains 8 gene (MEGF8). Due to its rarity and phenotypic overlap with other craniosynostosis syndromes, definitive molecular diagnosis of CRPT2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41826279
DOI: 10.1002/ajmg.a.70124

Genes

MEGF8

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

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