A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma

Caria, Helena; Matos, Tiago; Soares, Rui Oliveira; Santos, AR; Galhardo, I; Soares‐Almeida, Luís; Dias, Óscar; Andrea, Mário; Correia, Catarina; Fialho, Graça

doi:10.1111/j.1468-3083.2005.01087.x

Cited by 24 publications

(18 citation statements)

References 11 publications

(23 reference statements)

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“…The A7445G mutation in the MTTS1 gene (called T7445C in some earlier papers) has been reported in seven families to date [34][35][36][37][38][39][40]. The hearing loss in some of these families was non-syndromic, but in some families combined with palmoplantar keratoderma.…”

Section: Discussionmentioning

confidence: 99%

Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

et al. 2011

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Abstract. Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations are the MTRNR1 gene, encoding the 12S rRNA, the MTTS1 gene, encoding the tRNA for Ser (UCN) , and the MTTL1 gene, encoding the tRNA for Leu (UUR) . We investigated the impact of mtDNA mutations in the Greek hearing impaired population, by testing a cohort of 513 patients suffering from childhood onset prelingual or postlingual, bilateral, sensorineural, syndromic or non-syndromic hearing loss of any degree for six mitochondrial variants previously associated with deafness. Screening involved the MTRNR1 961delT/insC and A1555G mutations, the MTTL1 A3243G mutation, and the MTTS1 A7445G, 7472insC and T7510C mutations. Although two patients were tested positive for the A1555G mutation, we failed to identify any subject carrying the 961delT/insC, A3243G, A7445G, 7472insC, or T7510C mutations. Our findings strongly support our previously raised conclusion that mtDNA mutations are not a major risk factor for sensorineural deafness in the Greek population.

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Section: Discussionmentioning

confidence: 99%

Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

et al. 2011

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“…The resultant deafness is progressive, postlingual, and involves high frequencies. Penetrance and expressivity of this phenotype are variable, suggesting that further modifying environmental and/or genetic factors are involved .…”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

Palmoplantar keratodermas: clinical and genetic aspects

Has

Technau‐Hafsi

2016

J Deutsche Derma Gesell

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Summary Palmoplantar keratodermas comprise a diverse group of acquired and hereditary disorders marked by excessive thickening of the epidermis of palms and soles. Early onset and positive family history suggest a genetic cause. While hereditary forms of palmoplantar keratoderma (PPK) may represent the sole or dominant clinical feature, they may also be associated with other ectodermal defects or extracutaneous manifestations. In recent years, much progress has been made in deciphering the genetic basis of PPK, which has led to the emergence of new disorders and syndromes. The elucidation of disease mechanisms has opened new avenues for specific therapies, increasingly sparking interest in this field. Given the high heterogeneity with respect to clinical features, genetic defects, and disease mechanisms, the classification of PPK is based on various criteria. These include extent of disease manifestations, morphology of palmoplantar skin involvement, inheritance patterns, and molecular pathogenesis. Though not always feasible, the clinical distinction of various PPK entities is based on fine‐tuned criteria or clues. Remarkably, apparently distinct disorders have been shown to be allelic, as they are caused by mutations in the same gene. By contrast, similar clinical pictures may result from mutations in different genes. Because of this complexity, mutation analysis is required to determine the precise type of PPK. The best‐defined entities are described in this review.

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“…Our patient also showed hands hyperkeratosis mainly in the palms. This sign was also found in four pedigrees, harboring the m.7445A>G mutation that affects the processing of tRNA Ser showing hyperkeratosis as a sign of a keratoderma palmoplantar and deafness syndrome . Hyperkeratosis was also described in a patient with MELAS syndrome harboring an m.3243A>G mutation in the tRNA Leu .…”

Section: Resultsmentioning

confidence: 66%

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

et al. 2020

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The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has been repeatedly associated to mitochondrial DNA mutations. Here, we present a patient suffering from multiple symmetric lipomatosis and other skin signs. We found a new mitochondrial DNA mutation, m.8357T>C, in the tRNA Lys -coding gene and, using a cybrid approach, confirmed its pathogenicity. A meta-analysis of the dermatological signs of the patient shows that they are not common in patients with confirmed mitochondrial DNA mutations and suggests that, in these cases, lipomatosis is not related to the oxidative phosphorylation dysfunction, but to an alteration of an additional function associated to particular mitochondrial tRNAs. K E Y W O R D S dermatologic manifestations, erythema, hyperkeratosis, mitochondrial DNA mutation, multiple symmetric lipomatosis

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A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma

Cited by 24 publications

References 11 publications

Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

Detection of Deafness-Causing Mutations in the Greek Mitochondrial Genome

Palmoplantar keratodermas: clinical and genetic aspects

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

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