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Article

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

Journal of human genetics - 1 Apr 2018

Martín-Hernández Elena, Rodríguez-García María Elena, Chen Chun-An, Cotrina-Vinagre Francisco Javier, Carnicero-Rodríguez Patricia, Bellusci Marcello, Schaaf Christian P, Martínez-Azorín Francisco

Abstract excerpt

We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes, and complex IV deficiency of the mitochondrial respiratory chain. Whole-exome sequencing (WES)...

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PMID: 29410510
DOI: 10.1038/s10038-017-0398-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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