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Malouf syndrome is a rare congenital disorder involving dilated cardiomyopathy, hypergonadotropic hypogonadism, short chin, bilateral blepharoptosis, marfanoid digits and hypothyroidism. In the only reported case, sequence analysis of the LMNA coding region in a young female patient revealed a homozygous silent variant c.1698C>T (p.His566His) with no pathogenic changes identified, suggesting possible intronic or regulatory variants (PMID:24008991). No additional affected relatives were described and no segregation or functional data support LMNA involvement, leaving the clinical validity of LMNA in Malouf syndrome limited.
Key take-home: LMNA sequencing currently lacks diagnostic sensitivity for Malouf syndrome; further studies including noncoding regions and additional cases are needed to establish causality.
Gene–Disease AssociationLimitedSingle sporadic case with clinical features but no pathogenic coding LMNA variants identified (0 probands) [PMID:24008991] Genetic EvidenceLimitedNo pathogenic LMNA variants identified in the proband [PMID:24008991] Functional EvidenceNoneNo functional studies directly linking LMNA variants to Malouf syndrome |