Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

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Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis. / Crompton, D; Rehal, PK; MacPherson, L; Foster, K; Lunt, P; Hughes, I; Brady, AF; Pike, MG; De Gressi, S; Morgan, Neil; Hardy, C; Smith, M; MacDonald, Fiona; Maher, Eamonn; Kurian, Manju.

In: Molecular Genetics and Metabolism, Vol. 100, No. 2, 01.06.2010, p. 207-212.

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Crompton, D ; Rehal, PK ; MacPherson, L ; Foster, K ; Lunt, P ; Hughes, I ; Brady, AF ; Pike, MG ; De Gressi, S ; Morgan, Neil ; Hardy, C ; Smith, M ; MacDonald, Fiona ; Maher, Eamonn ; Kurian, Manju. / Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis. In: Molecular Genetics and Metabolism. 2010 ; Vol. 100, No. 2. pp. 207-212.

Bibtex

@article{9a7446ff3fa648aa96c21b7f0ac889fa,
title = "Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis",
abstract = "Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85{\%} mutations in infantile neuroaxonal dystrophy. We report the novel use of multiplex ligation-dependent probe amplification (MLPA) analysis to detect novel PLA2G6 duplications and deletions. The identification of such copy number variants (CNVs) expands the PLAN mutation spectrum and may account for up to 12.5{\%} of PLA2G6 mutations. MLPA should thus be employed to detect CNVs of PLA2G6 in patients who show clinical features of PLAN but in whom both disease-causing mutations cannot be identified on routine sequencing",
keywords = "MLPA, Deletion, ARMD, PLAN, Duplication, PLA2G6",
author = "D Crompton and PK Rehal and L MacPherson and K Foster and P Lunt and I Hughes and AF Brady and MG Pike and {De Gressi}, S and Neil Morgan and C Hardy and M Smith and Fiona MacDonald and Eamonn Maher and Manju Kurian",
year = "2010",
month = "6",
day = "1",
doi = "10.1016/j.ymgme.2010.02.009",
language = "English",
volume = "100",
pages = "207--212",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Elsevier",
number = "2",

}

RIS

TY - JOUR

T1 - Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

AU - Crompton, D

AU - Rehal, PK

AU - MacPherson, L

AU - Foster, K

AU - Lunt, P

AU - Hughes, I

AU - Brady, AF

AU - Pike, MG

AU - De Gressi, S

AU - Morgan, Neil

AU - Hardy, C

AU - Smith, M

AU - MacDonald, Fiona

AU - Maher, Eamonn

AU - Kurian, Manju

PY - 2010/6/1

Y1 - 2010/6/1

N2 - Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy. We report the novel use of multiplex ligation-dependent probe amplification (MLPA) analysis to detect novel PLA2G6 duplications and deletions. The identification of such copy number variants (CNVs) expands the PLAN mutation spectrum and may account for up to 12.5% of PLA2G6 mutations. MLPA should thus be employed to detect CNVs of PLA2G6 in patients who show clinical features of PLAN but in whom both disease-causing mutations cannot be identified on routine sequencing

AB - Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy. We report the novel use of multiplex ligation-dependent probe amplification (MLPA) analysis to detect novel PLA2G6 duplications and deletions. The identification of such copy number variants (CNVs) expands the PLAN mutation spectrum and may account for up to 12.5% of PLA2G6 mutations. MLPA should thus be employed to detect CNVs of PLA2G6 in patients who show clinical features of PLAN but in whom both disease-causing mutations cannot be identified on routine sequencing

KW - MLPA

KW - Deletion

KW - ARMD

KW - PLAN

KW - Duplication

KW - PLA2G6

U2 - 10.1016/j.ymgme.2010.02.009

DO - 10.1016/j.ymgme.2010.02.009

M3 - Article

C2 - 20226704

VL - 100

SP - 207

EP - 212

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 2

ER -