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Inicio Medicina Clínica (English Edition) Leber hereditary optic neuropathy: Usefulness of next generation sequencing to s...
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Vol. 146. Issue 4.
Pages 163-166 (February 2016)
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Vol. 146. Issue 4.
Pages 163-166 (February 2016)
Clinical report
Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy
Neuropatía óptica de Leber: utilidad de la secuenciación masiva en el estudio de mutaciones mitocondriales en aparente homoplasmia
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Pilar Carrasco Salasa,
Corresponding author
pcarrascos@ymail.com

Corresponding author.
, Carmen Palma Millaa, Javier López Montiela, Carmen Benitob, Sara Franco Freireb, Juan López Silesa
a Centro de Genética Molecular Genetaq, Málaga, Spain
b Hospital Materno-Infantil, Hospital Universitario Carlos Haya, Málaga, Spain
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Abstract
Background and objective

Leber hereditary optic neuropathy is characterised by acute and subacute visual loss, produced by mitochondrial DNA mutations.

Patients and methods

The molecular study of a family with only one affected member is presented.

Results

In the index case and in her mother, the mitochondrial mutation m.11778G>A in the MT-ND4 was detected in the heteroplasmic state. The index case's sister, without ocular manifestations, asked for genetic counselling. The study of the mentioned mutation by Sanger sequencing identified it in an apparent homoplasmic state. However, by means of next-generation sequencing (NGS), the mutation was actually in a heteroplasmic state.

Conclusions

Regarding genetic counselling, verifying a mutation in homoplasmic state is really important. We have observed that NGS allows us to discriminate between high levels of heteroplasmy and homoplasmy, meaning that it is a useful technique for the analysis of apparent homoplasmic results obtained with less sensitive technique, as Sanger sequencing.

Keywords:
Mitochondrial deoxyribonucleic acid
Leber hereditary optic atrophy
Next-generation sequencing
Homoplasmy
Resumen
Fundamento y objetivo

La neuropatía óptica hereditaria de Leber se caracteriza por una pérdida de visión aguda o subaguda, producida por mutaciones en el ADN mitocondrial.

Pacientes y métodos

Presentamos el estudio molecular realizado en una familia en la que solo uno de sus miembros presentaba signos de la enfermedad.

Resultados

En el caso índice y en la madre se detectó la mutación m.11778G>A en el gen MT-ND4 en heteroplasmia. La hermana del caso índice, sin manifestaciones oculares, acudió a consulta para consejo genético. El estudio de dicha mutación por secuenciación Sanger mostró que la portaba en homoplasmia. Sin embargo, mediante secuenciación de última generación (NGS) se pudo comprobar que se encontraba realmente en heteroplasmia.

Conclusiones

Confirmar que una mutación se encuentra en homoplasmia es importante cara al consejo genético. Hemos observado que la NGS permite distinguir entre grados elevados de heteroplasmia y verdaderas homoplasmias y, por tanto, es de utilidad en el estudio de pacientes en los que se detectan mutaciones en homoplasmia con metodologías de menor sensibilidad analítica.

Palabras clave:
Ácido desoxirribonucleico mitocondrial
Neuropatía óptica hereditaria de Leber
Secuenciación de última generación
Homoplasmia

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