Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

Liliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue

Resultado de la investigación: Contribución a una revistaArtículo

16 Citas (Scopus)

Resumen

© 2014 Patiño et al.The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease. Copyright:
Idioma originalInglés estadounidense
PublicaciónPLoS One
DOI
EstadoPublicada - oct 15 2014

Huella dactilar

Ceroid
Neuronal Ceroid-Lipofuscinoses
Exome
neurodegenerative diseases
mutation
dementia
epilepsy
Neurodegenerative Diseases
Mutation
disease course
molecular genetics
signs and symptoms (animals and humans)
genes
Genes
deterioration
Myoclonus
taxonomy
phenotype
Life Expectancy
Age of Onset

Citar esto

Patiño, L. C., Battu, R., Ortega-Recalde, O., Nallathambi, J., Anandula, V. R., Renukaradhya, U., & Laissue, P. (2014). Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. PLoS One. https://doi.org/10.1371/journal.pone.0109576
Patiño, Liliana Catherine ; Battu, Rajani ; Ortega-Recalde, Oscar ; Nallathambi, Jeyabalan ; Anandula, Venkata Ramana ; Renukaradhya, Umashankar ; Laissue, Paul. / Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. En: PLoS One. 2014.
@article{913e6176303042d4b6ec3bbaf7ed48c9,
title = "Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis",
abstract = "{\circledC} 2014 Pati{\~n}o et al.The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease. Copyright:",
author = "Pati{\~n}o, {Liliana Catherine} and Rajani Battu and Oscar Ortega-Recalde and Jeyabalan Nallathambi and Anandula, {Venkata Ramana} and Umashankar Renukaradhya and Paul Laissue",
year = "2014",
month = "10",
day = "15",
doi = "10.1371/journal.pone.0109576",
language = "English (US)",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",

}

Patiño, LC, Battu, R, Ortega-Recalde, O, Nallathambi, J, Anandula, VR, Renukaradhya, U & Laissue, P 2014, 'Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis', PLoS One. https://doi.org/10.1371/journal.pone.0109576

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. / Patiño, Liliana Catherine; Battu, Rajani; Ortega-Recalde, Oscar; Nallathambi, Jeyabalan; Anandula, Venkata Ramana; Renukaradhya, Umashankar; Laissue, Paul.

En: PLoS One, 15.10.2014.

Resultado de la investigación: Contribución a una revistaArtículo

TY - JOUR

T1 - Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

AU - Patiño, Liliana Catherine

AU - Battu, Rajani

AU - Ortega-Recalde, Oscar

AU - Nallathambi, Jeyabalan

AU - Anandula, Venkata Ramana

AU - Renukaradhya, Umashankar

AU - Laissue, Paul

PY - 2014/10/15

Y1 - 2014/10/15

N2 - © 2014 Patiño et al.The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease. Copyright:

AB - © 2014 Patiño et al.The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into six categories, which have been mainly defined regarding the clinical onset of symptoms. However, some patients cannot be easily included in a specific group because of significant variation in the age of onset and disease progression. Molecular genetics has emerged in recent years as a useful tool for enhancing NCL subtype classification. Fourteen NCL genetic forms (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. Despite advances in the diagnosis of neurodegenerative disorders mutations in these genes may cause similar phenotypes, which rends difficult accurate candidate gene selection for direct sequencing. Three siblings who were affected by variant late-infantile NCL are reported in the present study. We used whole-exome sequencing, direct sequencing and in silico approaches to identify the molecular basis of the disease. We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. Our results highlighted next generation sequencing as a novel and powerful methodological approach for the rapid determination of the molecular diagnosis of NCL. They also provide information regarding the phenotypic and molecular spectrum of CLN7 disease. Copyright:

U2 - 10.1371/journal.pone.0109576

DO - 10.1371/journal.pone.0109576

M3 - Article

JO - PLoS One

JF - PLoS One

SN - 1932-6203

ER -