Neurofibromatosis Type 1 : A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency
Joint Authors
Rocha, Dalila
Domingues, Sara
Isidoro, Lara
Sales Marques, Jorge
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-04
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Background.
Neurofibromatosis type 1 is a multisystemic, progressive disease, with an estimated incidence of 1/3500-2500.
Mitochondrial diseases are generally multisystemic and may be present at any age, and the global prevalence is 1/8500.
The diagnosis of these disorders is complex because of its clinical and genetic heterogeneity.
Case Report.
We present a rare case of the association of these two different genetic diseases, in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V).
Additionally, the patient is suspected of carrying an unspecified mutation causing respiratory chain complex I deficiency.
Clinical presentation included hypotonia, global development delay, reduced growth rate, progressive microcephaly, and numerous café-au-lait spots.
Discussion.
To the best of our knowledge this is the first report of complex I deficiency in a patient with neurofibromatosis type 1.
It is very important to maintain a high index of suspicion for the diagnosis of mitochondrial disorders.
In this patient, both the laboratory screening and muscle histology were normal and only the biochemical study of muscle allowed us to confirm the diagnosis.
American Psychological Association (APA)
Domingues, Sara& Isidoro, Lara& Rocha, Dalila& Sales Marques, Jorge. 2014. Neurofibromatosis Type 1 : A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-470979
Modern Language Association (MLA)
Domingues, Sara…[et al.]. Neurofibromatosis Type 1 : A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. Case Reports in Genetics No. 2014 (2014), pp.1-4.
https://search.emarefa.net/detail/BIM-470979
American Medical Association (AMA)
Domingues, Sara& Isidoro, Lara& Rocha, Dalila& Sales Marques, Jorge. Neurofibromatosis Type 1 : A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-470979
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-470979