Hypertrichosis in patients with <i>SURF1</i> mutations

Østergaard, Elsebet; Bradinova, Irena; Ravn, Susanne Holst; Hansen, Flemming Juul; Simeonov, E; Christensen, Ernst; Wibrand, Flemming; Schwartz, Marianne

doi:10.1002/ajmg.a.30972

Cited by 21 publications

(14 citation statements)

References 32 publications

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“…The presence of episodes of abnormal breathing patterns such as hyperpnoe (31), tachypnoe (33), prolonged inspiration (34, 35), and sighing respiration with alkaline urine (36) reported only in non‐carriers of missense mutations is in agreement with our hypothesis on the deleterious role of high pH and low partial CO 2 pressure on central nervous system cells. According to our experience, due to the decreased dicarbonate level (with normal blood pH) administration of dicarbonates is not reasonable and can be harmful.…”

Section: Discussionsupporting

confidence: 90%

“…Nine of 15 patients survived to the seventh year of life (60%) in the first group, whereas only 1 of 26 (4%) survived in the second. Based on available literature data concerning the follow up of LS COX− patients, we found that only 6 out of 32 (19%) affected children survived 7 years (5,20,(28)(29)(30)(31). At least 3 patients from our missense group (this study, 12, 13) reached adulthood, and only 1 child aged 8 years without a missense mutation has been reported to date (2).…”

Section: Discussionmentioning

confidence: 63%

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SURF1 missense mutations promote a mild Leigh phenotype

Piekutowska‐Abramczuk

Magner

Popowska

et al. 2009

Clinical Genetics

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 63%

SURF1 missense mutations promote a mild Leigh phenotype

Piekutowska‐Abramczuk

Magner

Popowska

et al. 2009

Clinical Genetics

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“…This mutation is frequent among Polish, Czech and probably other Slavonic populations 13 15 17 27 28 36. Here, we demonstrate that muscle biopsy of patients carrying the c.841delCT SURF1 gene mutation show features that are similar to those found in the knock-out mice 47.…”

Section: Discussionmentioning

confidence: 94%

Light and electron microscopy characteristics of the muscle of patients withSURF1gene mutations associated with Leigh disease

Pronicki

Matyja

Piekutowska‐Abramczuk

et al. 2007

J Clin Pathol

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Aims:Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS. Although deficiency of cytochrome c oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abnormalities have been rarely described. The aim of the present work is to assess the skeletal muscle morphology coexisting with SURF1 mutations from our own research and in the literature.Methods:Muscle samples from 21 patients who fulfilled the criteria of LS and SURF1 mutations (14 homozygotes and 7 heterozygotes of c.841delCT) were examined by light and electron microscopy.Results:Diffuse decreased activity or total deficit of COX was revealed histochemically in all examined muscles. No ragged red fibres (RRFs) were seen. Lipid accumulation and fibre size variability were found in 14 and 9 specimens, respectively. Ultrastructural assessment showed several mitochondrial abnormalities, lipid deposits, myofibrillar disorganisation and other minor changes. In five cases no ultrastructural changes were found. Apart from slight correlation between lipid accumulation shown by histochemical and ultrastructural techniques, no other correlations were revealed between parameters investigated, especially between severity of morphological changes and the patient’s age at the biopsy.Conclusion:Histological and histochemical features of muscle of genetically homogenous SURF1-deficient LS were reproducible in detection of COX deficit. Minor muscle changes were not commonly present. Also, ultrastructural abnormalities were not a consistent feature. It should be emphasised that SURF1-deficient muscle assessed in the light and electron microscopy panel may be interpreted as normal if COX staining is not employed.

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“…In some patients with LS due to PDHc deficiency, high forehead and large ears associated with ventricular septal defect have been reported 16. Of note, hypertrichosis, especially of the extremities and the forehead, is a frequent feature observed in patients with LS due to SURF1 mutations 17 18…”

Section: Diagnostical Proceduresmentioning

confidence: 99%

A guide to diagnosis and treatment of Leigh syndrome

Baertling

Rodenburg

Schaper

et al. 2013

Journal of Neurology, Neurosurgery & Psychiatry

223

191

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Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by Denis Archibald Leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by histopathological observations, to a clinical entity with indicative laboratory and radiological findings. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions. Examinations of fresh muscle tissue or cultured fibroblasts are important tools to establish a biochemical and genetic diagnosis. Numerous causative mutations in mitochondrial and nuclear genes, encoding components of the oxidative phosphorylation system have been described in the past years. Moreover, dysfunctions in pyruvate dehydrogenase complex or coenzyme Q10 metabolism may be associated with Leigh syndrome. To date, there is no cure for affected patients, and treatment options are mostly unsatisfactory. Here, we review the most important clinical aspects of Leigh syndrome, and discuss diagnostic steps as well as treatment options.

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Hypertrichosis in patients with SURF1 mutations

Cited by 21 publications

References 32 publications

SURF1 missense mutations promote a mild Leigh phenotype

SURF1 missense mutations promote a mild Leigh phenotype

Light and electron microscopy characteristics of the muscle of patients withSURF1gene mutations associated with Leigh disease

A guide to diagnosis and treatment of Leigh syndrome

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