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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. / Horn, Denise; Kapeller, Johannes; Rivera-Brugués, Núria; Moog, Ute; Lorenz-Depiereux, Bettina; Eck, Sebastian; Hempel, Maja; Wagenstaller, Janine; Gawthrope, Alex; Monaco, Anthony P; Bonin, Michael; Riess, Olaf; Wohlleber, Eva; Illig, Thomas; Bezzina, Connie R; Franke, Andre; Spranger, Stephanie; Villavicencio-Lorini, Pablo; Seifert, Wenke; Rosenfeld, Jochen; Klopocki, Eva; Rappold, Gudrun A; Strom, Tim M.

In: HUM MUTAT, Vol. 31, No. 11, 11.2010, p. E1851-60.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Horn, D, Kapeller, J, Rivera-Brugués, N, Moog, U, Lorenz-Depiereux, B, Eck, S, Hempel, M, Wagenstaller, J, Gawthrope, A, Monaco, AP, Bonin, M, Riess, O, Wohlleber, E, Illig, T, Bezzina, CR, Franke, A, Spranger, S, Villavicencio-Lorini, P, Seifert, W, Rosenfeld, J, Klopocki, E, Rappold, GA & Strom, TM 2010, 'Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits', HUM MUTAT, vol. 31, no. 11, pp. E1851-60. https://doi.org/10.1002/humu.21362

APA

Horn, D., Kapeller, J., Rivera-Brugués, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., Bonin, M., Riess, O., Wohlleber, E., Illig, T., Bezzina, C. R., Franke, A., Spranger, S., Villavicencio-Lorini, P., Seifert, W., ... Strom, T. M. (2010). Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. HUM MUTAT, 31(11), E1851-60. https://doi.org/10.1002/humu.21362

Vancouver

Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S et al. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. HUM MUTAT. 2010 Nov;31(11):E1851-60. https://doi.org/10.1002/humu.21362

Bibtex

@article{1b3bf19b9963400c828fe9aa963ff4df,
title = "Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits",
abstract = "Mental retardation affects 2-3% of the population and shows a high heritability.Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently. For most cases, the molecular basis of mental retardation with or without speech and language disorder is unknown due to the heterogeneity of underlying genetic factors.We have used molecular karyotyping on 1523 patients with mental retardation to detect copy number variations (CNVs) including deletions or duplications. These studies revealed three heterozygous overlapping deletions solely affecting the forkhead box P1 (FOXP1) gene. All three patients had moderate mental retardation and significant language and speech deficits. Since our results are consistent with a de novo occurrence of these deletions, we considered them as causal although we detected a single large deletion including FOXP1 and additional genes in 4104 ancestrally matched controls. These findings are of interest with regard to the structural and functional relationship between FOXP1 and FOXP2. Mutations in FOXP2 have been previously related to monogenic cases of developmental verbal dyspraxia. Both FOXP1 and FOXP2 are expressed in songbird and human brain regions that are important for the developmental processes that culminate in speech and language.",
keywords = "Base Sequence, Case-Control Studies, Child, Child, Preschool, Chromosomes, Artificial, Bacterial, DNA Breaks, DNA Primers, Female, Forkhead Transcription Factors, Heterozygote, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability, Language Disorders, Male, Polymerase Chain Reaction, Repressor Proteins, Sequence Deletion, Speech Disorders",
author = "Denise Horn and Johannes Kapeller and N{\'u}ria Rivera-Brugu{\'e}s and Ute Moog and Bettina Lorenz-Depiereux and Sebastian Eck and Maja Hempel and Janine Wagenstaller and Alex Gawthrope and Monaco, {Anthony P} and Michael Bonin and Olaf Riess and Eva Wohlleber and Thomas Illig and Bezzina, {Connie R} and Andre Franke and Stephanie Spranger and Pablo Villavicencio-Lorini and Wenke Seifert and Jochen Rosenfeld and Eva Klopocki and Rappold, {Gudrun A} and Strom, {Tim M}",
note = "{\textcopyright}2010 Wiley-Liss, Inc.",
year = "2010",
month = nov,
doi = "10.1002/humu.21362",
language = "English",
volume = "31",
pages = "E1851--60",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "11",

}

RIS

TY - JOUR

T1 - Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

AU - Horn, Denise

AU - Kapeller, Johannes

AU - Rivera-Brugués, Núria

AU - Moog, Ute

AU - Lorenz-Depiereux, Bettina

AU - Eck, Sebastian

AU - Hempel, Maja

AU - Wagenstaller, Janine

AU - Gawthrope, Alex

AU - Monaco, Anthony P

AU - Bonin, Michael

AU - Riess, Olaf

AU - Wohlleber, Eva

AU - Illig, Thomas

AU - Bezzina, Connie R

AU - Franke, Andre

AU - Spranger, Stephanie

AU - Villavicencio-Lorini, Pablo

AU - Seifert, Wenke

AU - Rosenfeld, Jochen

AU - Klopocki, Eva

AU - Rappold, Gudrun A

AU - Strom, Tim M

N1 - ©2010 Wiley-Liss, Inc.

PY - 2010/11

Y1 - 2010/11

N2 - Mental retardation affects 2-3% of the population and shows a high heritability.Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently. For most cases, the molecular basis of mental retardation with or without speech and language disorder is unknown due to the heterogeneity of underlying genetic factors.We have used molecular karyotyping on 1523 patients with mental retardation to detect copy number variations (CNVs) including deletions or duplications. These studies revealed three heterozygous overlapping deletions solely affecting the forkhead box P1 (FOXP1) gene. All three patients had moderate mental retardation and significant language and speech deficits. Since our results are consistent with a de novo occurrence of these deletions, we considered them as causal although we detected a single large deletion including FOXP1 and additional genes in 4104 ancestrally matched controls. These findings are of interest with regard to the structural and functional relationship between FOXP1 and FOXP2. Mutations in FOXP2 have been previously related to monogenic cases of developmental verbal dyspraxia. Both FOXP1 and FOXP2 are expressed in songbird and human brain regions that are important for the developmental processes that culminate in speech and language.

AB - Mental retardation affects 2-3% of the population and shows a high heritability.Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently. For most cases, the molecular basis of mental retardation with or without speech and language disorder is unknown due to the heterogeneity of underlying genetic factors.We have used molecular karyotyping on 1523 patients with mental retardation to detect copy number variations (CNVs) including deletions or duplications. These studies revealed three heterozygous overlapping deletions solely affecting the forkhead box P1 (FOXP1) gene. All three patients had moderate mental retardation and significant language and speech deficits. Since our results are consistent with a de novo occurrence of these deletions, we considered them as causal although we detected a single large deletion including FOXP1 and additional genes in 4104 ancestrally matched controls. These findings are of interest with regard to the structural and functional relationship between FOXP1 and FOXP2. Mutations in FOXP2 have been previously related to monogenic cases of developmental verbal dyspraxia. Both FOXP1 and FOXP2 are expressed in songbird and human brain regions that are important for the developmental processes that culminate in speech and language.

KW - Base Sequence

KW - Case-Control Studies

KW - Child

KW - Child, Preschool

KW - Chromosomes, Artificial, Bacterial

KW - DNA Breaks

KW - DNA Primers

KW - Female

KW - Forkhead Transcription Factors

KW - Heterozygote

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Intellectual Disability

KW - Language Disorders

KW - Male

KW - Polymerase Chain Reaction

KW - Repressor Proteins

KW - Sequence Deletion

KW - Speech Disorders

U2 - 10.1002/humu.21362

DO - 10.1002/humu.21362

M3 - SCORING: Journal article

C2 - 20848658

VL - 31

SP - E1851-60

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 11

ER -