Thania Ordaz-Robles, Jessica Vanesa Sánchez-Aguilar, Carlos Alfonso Guzmán-Martín, Sergio Saldaña-Pimentel, Ilan Vinitzky Brener, Fernando Ramírez-Jiménez, María Hortensia Valdez-de la Torre, Ghalib Bardai, Frank Rauch
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FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.
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 most severe phenotypes. Despite increasing research on MNS, many aspects of its genetic and phenotypic spectrum remain unknown. In this work, we presented two Mexican cases with a diagnosis of MNS with different FLNA missense variants p.(Leu1193Pro) and p.(Ser1199Leu). In addition, we performed a comprehensive review of the literature about FLNA variants related to MNS. This study reinforced the genetic and phenotypic complexity of MNS, emphasizing the critical role of exon 22 variants in the pathogenesis of the disease.
期刊介绍：
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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