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Germline mosaicism for a MECP2 mutation in a man with two Rett daughters

✍ Scribed by JC Evans; HL Archer; SD Whatley; A Clarke

Book ID
110888265
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
195 KB
Volume
70
Category
Article
ISSN
0009-9163

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Novel de novo nonsense mutation of MECP2
Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
✍ Soo-Jeong Kim; Edwin H. Cook Jr. πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 35 KB πŸ‘ 3 views

Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le