Molecular study of chromosome 15 in 22 patients with Angelman syndrome

J. Beuten; K. Mangelschots; I. Buntinx; P. Coucke; O. F. Brouwer; R. C. Hennekam; C. van Broeckhoven; P. J. Willems

doi:https://doi.org/10.1007/BF00217446

Molecular study of chromosome 15 in 22 patients with Angelman syndrome

J. Beuten, K. Mangelschots, I. Buntinx, P. Coucke, O. F. Brouwer, R. C. Hennekam, C. van Broeckhoven, P. J. Willems

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Abstract

DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of chromosome 15q11-q13 with one or more of these markers. No duplications of junction fragments, bridging deletions or duplication breakpoints were observed. The GABRB3 gene was deleted in all deletion-positive patients tested. Analysis of maternal DNA indicated that each deletion was a de novo event. All deletions were of maternal origin; this is in agreement with genomic imprinting in AS

Original language	English
Pages (from-to)	489-495
Journal	Human genetics
Volume	90
Issue number	5
DOIs	https://doi.org/10.1007/BF00217446
Publication status	Published - 1993

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https://doi.org/10.1007/BF00217446

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@article{3896df5a5eb54ec6afa08ca06497cceb,

title = "Molecular study of chromosome 15 in 22 patients with Angelman syndrome",

abstract = "DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of chromosome 15q11-q13 with one or more of these markers. No duplications of junction fragments, bridging deletions or duplication breakpoints were observed. The GABRB3 gene was deleted in all deletion-positive patients tested. Analysis of maternal DNA indicated that each deletion was a de novo event. All deletions were of maternal origin; this is in agreement with genomic imprinting in AS",

author = "J. Beuten and K. Mangelschots and I. Buntinx and P. Coucke and Brouwer, {O. F.} and Hennekam, {R. C.} and {van Broeckhoven}, C. and Willems, {P. J.}",

year = "1993",

doi = "https://doi.org/10.1007/BF00217446",

language = "English",

volume = "90",

pages = "489--495",

journal = "Human genetics",

issn = "0340-6717",

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TY - JOUR

T1 - Molecular study of chromosome 15 in 22 patients with Angelman syndrome

AU - Beuten, J.

AU - Mangelschots, K.

AU - Buntinx, I.

AU - Coucke, P.

AU - Brouwer, O. F.

AU - Hennekam, R. C.

AU - van Broeckhoven, C.

AU - Willems, P. J.

PY - 1993

Y1 - 1993

N2 - DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of chromosome 15q11-q13 with one or more of these markers. No duplications of junction fragments, bridging deletions or duplication breakpoints were observed. The GABRB3 gene was deleted in all deletion-positive patients tested. Analysis of maternal DNA indicated that each deletion was a de novo event. All deletions were of maternal origin; this is in agreement with genomic imprinting in AS

AB - DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of chromosome 15q11-q13 with one or more of these markers. No duplications of junction fragments, bridging deletions or duplication breakpoints were observed. The GABRB3 gene was deleted in all deletion-positive patients tested. Analysis of maternal DNA indicated that each deletion was a de novo event. All deletions were of maternal origin; this is in agreement with genomic imprinting in AS

U2 - https://doi.org/10.1007/BF00217446

DO - https://doi.org/10.1007/BF00217446

M3 - Article

C2 - 8094063

SN - 0340-6717

VL - 90

SP - 489

EP - 495

JO - Human genetics

JF - Human genetics

IS - 5

ER -