Abstract
Fragile X syndrome, the most common form of X-linked intellectual disability, results from transcriptional silencing of the FMR1 gene. As of yet, the phenotypic consequences of the duplication of FMR1 have not been well characterized. In this report, we characterize the clinical features in two females with duplications involving only the FMR1 gene. In addition, we describe the phenotypes of two subjects with deletion of FMR1 and show that both loss and gain of FMR1 copy number can lead to overlapping neurodevelopmental phenotypes. Our report supports the notion that FMR1 gene dosage is important for normal neurocognitive function.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 333-339 |
| Number of pages | 7 |
| Journal | Neurogenetics |
| Volume | 13 |
| Issue number | 4 |
| DOIs | |
| State | Published - Nov 2012 |
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Keywords
- Copy number
- Duplication
- FMR1
ASJC Scopus subject areas
- Genetics(clinical)
- Cellular and Molecular Neuroscience
- Genetics
Cite this
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. / Nagamani, Sandesh C S; Erez, Ayelet; Probst, Frank J.; Bader, Patricia; Evans, Patricia; Baker, Linda A.; Fang, Ping; Bertin, Terry; Hixson, Patricia; Stankiewicz, Pawel; Nelson, David; Patel, Ankita; Cheung, Sau Wai.
In: Neurogenetics, Vol. 13, No. 4, 11.2012, p. 333-339.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
AU - Nagamani, Sandesh C S
AU - Erez, Ayelet
AU - Probst, Frank J.
AU - Bader, Patricia
AU - Evans, Patricia
AU - Baker, Linda A.
AU - Fang, Ping
AU - Bertin, Terry
AU - Hixson, Patricia
AU - Stankiewicz, Pawel
AU - Nelson, David
AU - Patel, Ankita
AU - Cheung, Sau Wai
PY - 2012/11
Y1 - 2012/11
N2 - Fragile X syndrome, the most common form of X-linked intellectual disability, results from transcriptional silencing of the FMR1 gene. As of yet, the phenotypic consequences of the duplication of FMR1 have not been well characterized. In this report, we characterize the clinical features in two females with duplications involving only the FMR1 gene. In addition, we describe the phenotypes of two subjects with deletion of FMR1 and show that both loss and gain of FMR1 copy number can lead to overlapping neurodevelopmental phenotypes. Our report supports the notion that FMR1 gene dosage is important for normal neurocognitive function.
AB - Fragile X syndrome, the most common form of X-linked intellectual disability, results from transcriptional silencing of the FMR1 gene. As of yet, the phenotypic consequences of the duplication of FMR1 have not been well characterized. In this report, we characterize the clinical features in two females with duplications involving only the FMR1 gene. In addition, we describe the phenotypes of two subjects with deletion of FMR1 and show that both loss and gain of FMR1 copy number can lead to overlapping neurodevelopmental phenotypes. Our report supports the notion that FMR1 gene dosage is important for normal neurocognitive function.
KW - Copy number
KW - Duplication
KW - FMR1
UR - http://www.scopus.com/inward/record.url?scp=84868303487&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84868303487&partnerID=8YFLogxK
U2 - 10.1007/s10048-012-0340-y
DO - 10.1007/s10048-012-0340-y
M3 - Article
C2 - 22890812
AN - SCOPUS:84868303487
VL - 13
SP - 333
EP - 339
JO - Neurogenetics
JF - Neurogenetics
SN - 1364-6745
IS - 4
ER -