Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.

Lin Yang, GuangSheng Wu, HuiMei Yin, MengLan Pan, YaFei Zhu

BMC pediatrics 2023 Jul 08

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Periventricular nodular heterotopia (PNH), associated with FLNA mutations, is a rare clinical condition potentially associated with multiple systemic conditions, including cardiac, pulmonary, skeletal, and cutaneous diseases. However, due to a paucity of information in the literature, accurate prognostic advice cannot be provided to patients with the disease. We report a 2-year-old female whose PNH was associated with a nonsense mutation in the q28 region of the X chromosome, in exon 31 of FLNA (c.5159dupA). The patient is currently seizure-free and has no congenital heart disease, lung disease or skeletal or joint issues, and her development is normal. FLNA-associated PNH is a genetically-heterogeneous disease, and the FLNA mutation, c.5159dupA (p.Tyr1720*) is a newly identified pathogenic variant. FLNA characterization will help the clinical diagnosis and treatment of PNH and provide individualized genetic counseling for patients. © 2023. The Author(s).

Citation

Lin Yang, GuangSheng Wu, HuiMei Yin, MengLan Pan, YaFei Zhu. Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review. BMC pediatrics. 2023 Jul 08;23(1):346