Open AccessChiari Malformation Type I in a patient with a novel NKX2-1 mutation
Author(s) -
Daniel Gonçalves,
Lara Lourenço,
Micaela Guardiano,
Cíntia Castro-Correia,
Mafalda Sampaio,
Miguel Leão
Publication year - 2019
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_108_18
Subject(s) - medicine , foramen magnum , exon , forebrain , congenital hypothyroidism , germline mutation , germline , mutation , gene , thyroid , phenotype , pathology , genetics , anatomy , biology , central nervous system
Chiari Malformation Type 1 is a congenital, condition characterized by abnormally shaped cerebellar tonsils that are displaced below the level of the foramen magnum. NKX2-1 gene encodes a transcription factor expressed during early development of thyroid, lung, and forebrain, and germline NKX2-1 mutations can lead to dysfunction in any of these three organs, resulting in brain-lung-thyroid syndrome. There have been few reports of structural brain anomalies in patients with an NKX2-1 -related disorder. We report the first case of a girl with a genetically identified mutation in NKX2-1 that presents with a Chiari Malformation Type 1, eventually expanding the phenotypic spectrum of NKX2-1 -related disorders while also highlighting a novel heterozygous pathogenic variant at exon 3 that disrupts the reading framework, originating an NKX2-1 protein with a different C-terminal.