期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 176, 期 7, 页码 1641-1647出版社
WILEY
DOI: 10.1002/ajmg.a.38831
关键词
child development; genetic association studies; inborn genetic diseases; rare diseases; siblings
资金
- Eunice Kennedy Shriver National Institute of Child Health and Human Development [U54HD061222]
- National Center for Research Resources [U54RR019478]
We present three children from two unrelated families with Angelman syndrome (AS) whose developmental skills are far more advanced than any other non-mosaic AS individual ever reported. All have normal gait and use syntactic language spontaneously to express their needs. All of them have a c.2T>C (p.Met1Thr) variant in UBE3A, which abrogates the start codon of isoform 1, but not of isoforms 2 and 3. This variant was maternally inherited in one set of siblings, but de novo in the other child from the unrelated family. This report underscores the importance of considering AS in the differential diagnosis even in the presence of syntactic speech.
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