A Novel Mutation Diagnosing in Allan-Herndon-Dudley's Syndrome

Ipek R., Bozdogan S., Komur M., Okuyaz C.

JOURNAL OF PEDIATRIC GENETICS, 2021 (ESCI) identifier

  • Yayın Türü: Makale / Derleme
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1055/s-0041-1740457
  • Dergi Adı: JOURNAL OF PEDIATRIC GENETICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Anahtar Kelimeler: fT3 level, hypotonia, mental retardation, SLC16A2, THYROID-HORMONE TRANSPORTER
  • Çukurova Üniversitesi Adresli: Evet

Özet

Allan-Herndon-Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which is a thyroid hormone transporter. A 6-month-old male patient presented to our outpatient clinic with a serious hypotonia complaint. With a preliminary diagnosis of AHDS, a molecular genetic examination was performed. The molecular genetic analysis detected a new previously unidentified variant in the SLC16A2 gene. This case has been presented to report the AHDS, which is a rare cause of hypotonia in patients presenting/consulting with severe hypotonia, global developmental delay, and abnormal thyroid function test results. Besides, a novel pathogenic mutation in the SLC16A2 gene has been described in the present article.