Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

Sandesh C S Nagamani; Ayelet Erez; Frank J. Probst; Patricia Bader; Patricia Evans; Linda A. Baker; Ping Fang; Terry Bertin; Patricia Hixson; Pawel Stankiewicz; David Nelson; Ankita Patel; Sau Wai Cheung

doi:10.1007/s10048-012-0340-y

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

Sandesh C S Nagamani, Ayelet Erez, Frank J. Probst, Patricia Bader, Patricia Evans, Linda A. Baker, Ping Fang, Terry Bertin, Patricia Hixson, Pawel Stankiewicz, David Nelson, Ankita Patel, Sau Wai Cheung

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

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	https://doi.org/10.1007/s10048-012-0340-y
State	Published - Nov 2012

Keywords

Copy number
Duplication
FMR1

ASJC Scopus subject areas

Genetics
Genetics(clinical)
Cellular and Molecular Neuroscience

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10.1007/s10048-012-0340-y

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Nagamani, S. C. S., Erez, A., Probst, F. J., Bader, P., Evans, P., Baker, L. A., Fang, P., Bertin, T., Hixson, P., Stankiewicz, P., Nelson, D., Patel, A., & Cheung, S. W. (2012). Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics, 13(4), 333-339. https://doi.org/10.1007/s10048-012-0340-y

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title = "Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function",

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.",

keywords = "Copy number, Duplication, FMR1",

author = "Nagamani, {Sandesh C S} and Ayelet Erez and Probst, {Frank J.} and Patricia Bader and Patricia Evans and Baker, {Linda A.} and Ping Fang and Terry Bertin and Patricia Hixson and Pawel Stankiewicz and David Nelson and Ankita Patel and Cheung, {Sau Wai}",

note = "Funding Information: We thank the patients and their families for their kind cooperation. This work was supported in part by fellowship grants by the National Urea Cycle Disorders Foundation and LCRC from Osteogenesis Imperfecta Foundation (SNSC), DK081735-01A1, NIH /NIGMS T32 contract grant no. GM07526 (AE).",

year = "2012",

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doi = "10.1007/s10048-012-0340-y",

language = "English (US)",

volume = "13",

pages = "333--339",

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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

N1 - Funding Information: We thank the patients and their families for their kind cooperation. This work was supported in part by fellowship grants by the National Urea Cycle Disorders Foundation and LCRC from Osteogenesis Imperfecta Foundation (SNSC), DK081735-01A1, NIH /NIGMS T32 contract grant no. GM07526 (AE).

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

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JO - Neurogenetics

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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

Abstract

Keywords

ASJC Scopus subject areas

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