A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Marwan Shinawi; Christian P. Schaaf; Samarth S. Bhatt; Zhilian Xia; Ankita Patel; Sau Wai Cheung; Brendan Lanpher; Sandra Nagl; Heinrich Stephan Herding; Claudia Nevinny-Stickel; Ladonna L. Immken; Gayle Simpson Patel; Jennifer Ruth German; Arthur L. Beaudet; Pawel Stankiewicz

doi:10.1038/ng.481

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Marwan Shinawi, Christian P. Schaaf, Samarth S. Bhatt, Zhilian Xia, Ankita Patel, Sau Wai Cheung, Brendan Lanpher, Sandra Nagl, Heinrich Stephan Herding, Claudia Nevinny-Stickel, Ladonna L. Immken, Gayle Simpson Patel, Jennifer Ruth German, Arthur L. Beaudet, Pawel Stankiewicz

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Abstract

We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.

Original language	English
Pages (from-to)	1269-1271
Number of pages	3
Journal	Nature Genetics
Volume	41
Issue number	12
DOIs	https://doi.org/10.1038/ng.481
State	Published - Dec 2009

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Shinawi, M., Schaaf, C. P., Bhatt, S. S., Xia, Z., Patel, A., Cheung, S. W., Lanpher, B., Nagl, S., Herding, H. S., Nevinny-Stickel, C., Immken, L. L., Patel, G. S., German, J. R., Beaudet, A. L., & Stankiewicz, P. (2009). A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nature Genetics, 41(12), 1269-1271. https://doi.org/10.1038/ng.481

@article{e131dc21bebb43b591c28150c73e7653,

title = "A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes",

abstract = "We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.",

author = "Marwan Shinawi and Schaaf, {Christian P.} and Bhatt, {Samarth S.} and Zhilian Xia and Ankita Patel and Cheung, {Sau Wai} and Brendan Lanpher and Sandra Nagl and Herding, {Heinrich Stephan} and Claudia Nevinny-Stickel and Immken, {Ladonna L.} and Patel, {Gayle Simpson} and German, {Jennifer Ruth} and Beaudet, {Arthur L.} and Pawel Stankiewicz",

note = "Funding Information: We thank all families who participated in this study; C. Carvalho, W. Gu, J.R. Lupski, C. Shaw and M. Strivens for helpful discussion; and P. Eng, Z. Ou and M. Suzuki for technical assistance. A.L.B. was supported by US National Institutes of Health grants HD-037283, M01-RR00188 (General Clinical Research Center), HD-024064 (Mental Retardation and Developmental Disabilities Research Center) and RR-019478 (Rare Disease Clinical Research Consortia) and by generous support from the William Stamps Farish Fund. P.S. was supported in part by grant R13-0005-04/2008 from the Polish Ministry of Science and Higher Education.",

year = "2009",

month = dec,

doi = "10.1038/ng.481",

language = "English",

volume = "41",

pages = "1269--1271",

journal = "Nature Genetics",

issn = "1061-4036",

number = "12",

}

Shinawi, M, Schaaf, CP, Bhatt, SS, Xia, Z, Patel, A, Cheung, SW, Lanpher, B, Nagl, S, Herding, HS, Nevinny-Stickel, C, Immken, LL, Patel, GS, German, JR, Beaudet, AL & Stankiewicz, P 2009, 'A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes', Nature Genetics, vol. 41, no. 12, pp. 1269-1271. https://doi.org/10.1038/ng.481

TY - JOUR

T1 - A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

AU - Shinawi, Marwan

AU - Schaaf, Christian P.

AU - Bhatt, Samarth S.

AU - Xia, Zhilian

AU - Patel, Ankita

AU - Cheung, Sau Wai

AU - Lanpher, Brendan

AU - Nagl, Sandra

AU - Herding, Heinrich Stephan

AU - Nevinny-Stickel, Claudia

AU - Immken, Ladonna L.

AU - Patel, Gayle Simpson

AU - German, Jennifer Ruth

AU - Beaudet, Arthur L.

AU - Stankiewicz, Pawel

N1 - Funding Information: We thank all families who participated in this study; C. Carvalho, W. Gu, J.R. Lupski, C. Shaw and M. Strivens for helpful discussion; and P. Eng, Z. Ou and M. Suzuki for technical assistance. A.L.B. was supported by US National Institutes of Health grants HD-037283, M01-RR00188 (General Clinical Research Center), HD-024064 (Mental Retardation and Developmental Disabilities Research Center) and RR-019478 (Rare Disease Clinical Research Consortia) and by generous support from the William Stamps Farish Fund. P.S. was supported in part by grant R13-0005-04/2008 from the Polish Ministry of Science and Higher Education.

PY - 2009/12

Y1 - 2009/12

N2 - We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.

AB - We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.

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U2 - 10.1038/ng.481

DO - 10.1038/ng.481

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VL - 41

SP - 1269

EP - 1271

JO - Nature Genetics

JF - Nature Genetics

IS - 12

ER -

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

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