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Article

FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.

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

Ordaz-Robles Thania, Sánchez-Aguilar Jessica Vanesa, Guzmán-Martín Carlos Alfonso, Saldaña-Pimentel Sergio, Brener Ilan Vinitzky, Ramírez-Jiménez Fernando, la Torre María Hortensia Valdez-de, Bardai Ghalib, Rauch Frank

Abstract excerpt

Melnick-Needles Syndrome (MNS; OMIM #309350) is a rare X-linked dominant osteochondrodysplasia caused by FLNA gain-of-function variants. It is characterized by short stature, facial dysmorphism, skeletal anomalies, and systemic complications. FLNA encodes Filamin A, a cytoskeletal protein with over 90 binding partners. Variants in FLNA cause a broad spectrum of disorders, among which MNS represents one of the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40996075
DOI: 10.1002/ajmg.a.64246

Genes

FLNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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