Open AccessA Video Report of Brain–Lung–Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene
Author(s) -
Takenori Tozawa,
Kenji Yokochi,
Satoshi Kono,
Takashi Konishi,
Toshiyuki Yamamoto,
Akira Nishimura,
Tomohiro Chiyonobu,
Masafumi Morimoto,
Hajime Hosoi
Publication year - 2016
Publication title -
child neurology open
Language(s) - English
Resource type - Journals
ISSN - 2329-048X
DOI - 10.1177/2329048x16665012
Subject(s) - frameshift mutation , thyroid , mutation , lung , medicine , gene , genetics , biology
Benign hereditary chorea is a rare autosomal-dominant disorder that is characterized by childhood-onset nonprogressive chorea and normal cognitive function. Defects in NKX2-1 on chromosome 14q13, which encodes thyroid transcription factor 1, produce a concurrent clinical manifestation of chorea, respiratory distress, and hypothyroidism known as “brain–lung–thyroid syndrome.” Here, the authors describe a video report of benign hereditary chorea in a Japanese female with a novel frameshift mutation of NKX2-1 (c.915_916insC) (p.Ala303ArgfsX132) that was initially misdiagnosed as ataxic cerebral palsy. In early infancy, especially before the appearance of chorea, benign hereditary chorea can be misdiagnosed as ataxic and dyskinetic cerebral palsy due to shared clinical features including motor delay, hypotonia, ataxic gait, and dystonia