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Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies

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Harvard

Zink, AM, Wohlleber, E, Engels, H, Rødningen, OK, Ravn, K, Heilmann, S, Rehnitz, J, Katzorke, N, Kraus, C, Blichfeldt, S, Hoffmann, P, Reutter, H, Brockschmidt, FF, Kreiß-Nachtsheim, M, Vogt, PH, Prescott, TE, Tümer, Z & Lee, JA 2014, 'Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies', Molecular Syndromology, bind 5, nr. 2, s. 65-75. https://doi.org/10.1159/000357962

APA

Zink, A. M., Wohlleber, E., Engels, H., Rødningen, O. K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F. F., Kreiß-Nachtsheim, M., Vogt, P. H., Prescott, T. E., Tümer, Z., & Lee, J. A. (2014). Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies. Molecular Syndromology, 5(2), 65-75. https://doi.org/10.1159/000357962

CBE

Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA. 2014. Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies. Molecular Syndromology. 5(2):65-75. https://doi.org/10.1159/000357962

MLA

Vancouver

Author

Zink, A M ; Wohlleber, E ; Engels, H ; Rødningen, O K ; Ravn, K ; Heilmann, Silja ; Rehnitz, J ; Katzorke, N ; Kraus, C ; Blichfeldt, S ; Hoffmann, P ; Reutter, H ; Brockschmidt, F F ; Kreiß-Nachtsheim, M ; Vogt, P H ; Prescott, T E ; Tümer, Z ; Lee, J A. / Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies. I: Molecular Syndromology. 2014 ; Bind 5, Nr. 2. s. 65-75.

Bibtex

@article{2d18ad0917d249ee89aeddd3675ecdbf,
title = "Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies",
abstract = "Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1.",
author = "Zink, {A M} and E Wohlleber and H Engels and R{\o}dningen, {O K} and K Ravn and Silja Heilmann and J Rehnitz and N Katzorke and C Kraus and S Blichfeldt and P Hoffmann and H Reutter and Brockschmidt, {F F} and M Krei{\ss}-Nachtsheim and Vogt, {P H} and Prescott, {T E} and Z T{\"u}mer and Lee, {J A}",
year = "2014",
month = feb,
doi = "10.1159/000357962",
language = "English",
volume = "5",
pages = "65--75",
journal = "Molecular Syndromology",
issn = "1661-8769",
publisher = "S.Karger AG",
number = "2",

}

RIS

TY - JOUR

T1 - Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies

AU - Zink, A M

AU - Wohlleber, E

AU - Engels, H

AU - Rødningen, O K

AU - Ravn, K

AU - Heilmann, Silja

AU - Rehnitz, J

AU - Katzorke, N

AU - Kraus, C

AU - Blichfeldt, S

AU - Hoffmann, P

AU - Reutter, H

AU - Brockschmidt, F F

AU - Kreiß-Nachtsheim, M

AU - Vogt, P H

AU - Prescott, T E

AU - Tümer, Z

AU - Lee, J A

PY - 2014/2

Y1 - 2014/2

N2 - Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1.

AB - Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1.

U2 - 10.1159/000357962

DO - 10.1159/000357962

M3 - Journal article

C2 - 24715853

VL - 5

SP - 65

EP - 75

JO - Molecular Syndromology

JF - Molecular Syndromology

SN - 1661-8769

IS - 2

ER -

ID: 44267607