"Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage"

Filamin A, encoded by the X‐linked gene FLNA, links the cell membrane with the cytoskeleton and acts as a regulator of the actin cytoskeleton. Mutations in FLNA cause a large… Click to show full abstract

Filamin A, encoded by the X‐linked gene FLNA, links the cell membrane with the cytoskeleton and acts as a regulator of the actin cytoskeleton. Mutations in FLNA cause a large spectrum of congenital malformations during embryonic development, including Melnick–Needles syndrome (MNS). However, reports of MNS, especially in males, are rare, and the pathogenesis molecular mechanisms are not well understood.

Keywords: melnick needles; mutation flna; needles syndrome; flna attenuating; syndrome mns; attenuating migration

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023

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