Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene
Küçük Resim Yok
Tarih
2020
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Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Mutations in the Methyl-CpG-binding protein 2 (MECP2) gene have been implicated in the etiology of Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls. MECP2 mutations in males, once thought to be lethal, are now recognized with a broad spectrum of clinical manifestations. Here we report a 3-year-old boy who presented with developmental problems and regression and eventually was diagnosed with RTT that genetic analysis revealed to be a hemizygous c.316C>T missense mutation in the MECP2 gene suggesting somatic mosaicism with the normal 46,XY karyotype. DNA analysis of the patient’s mother showed this either to be a de novo mutation or a case of gonadal mosaicism. To the best of our knowledge, this is the first case report of RTT in a young boy with a hemizygous c.316C>T mutation in the MECP2 gene.
Açıklama
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0-Belirlenecek
Kaynak
Düşünen Adam - Psikiyatri ve Nörolojik Bilimler Dergisi
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
33
Sayı
1
