R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma

Jiang, Shujuan; Di, Zhenghong; Huang, Dan; Zhang, Jiubin; Zhang, Yuanyuan; Li, Shuqin; He, Rong

doi:10.1016/j.ijporl.2014.06.008

Cited by 8 publications

(6 citation statements)

References 36 publications

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“…[1][2][3] Las primeras tienden a aparecer más temprano en la vida, y se asocian a patrones familiares, inclusive a síndromes; mientras que las segundas se desarrollan más tardíamente, sin asociación familiar y con etiología a veces conocida. 4,[11][12][13][14] Las formas hereditarias, según Lucker y colaboradores, se clasifican en difusas, numulares-lineales o papulares, con origen autosómico dominante o recesivo y pueden o no tener asociaciones con alguna afección sistémica. 4,6 Entre las autosómicas dominantes, la más común es el tipo Unna-Thost, con una prevalencia de 1:60,000.…”

Section: Wwwmedigraphicorgmxunclassified

“…30 Sin embargo, se han detectado casos esporádicos y congénitos, 31 y otros en los que se piensa que el patrón de transmisión hereditario pudiera ser recesivo. 12,28,32 En cuanto a su morfología, Wachters la describe clínicamente como placas numulares o lineales, queratósicas en los puntos de presión en palmas, plantas y en las puntas de los dedos, acompañadas de dolor y limitación del movimiento, (síntoma señalado por nuestra paciente), y que suele ser el motivo principal de la consulta. 30 A nivel histopatológico se aprecian cambios epidermolíticos.…”

Section: Figura 4: Mayor Aumento De Fotografía Anterior (Hande 10x)unclassified

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Queratodermia palmoplantar hereditaria tipo Wachters. Comunicación de un caso

Otamendi¹,

Cepeda²,

Franco³

et al. 2021

Revista Del Centro Dermatológico Pascua

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Las queratodermias palmoplantares son un grupo heterogéneo de enfermedades, caracterizadas por un marcado engrosamiento de la epidermis de palmas y plantas. Su origen puede ser adquirido o hereditario, y de acuerdo con su distribución, se les clasifica en difusas, focales (numulares o lineales) o papulares. En este artículo, se comunica un caso que corresponde a la variedad Wachters, con herencia probablemente autosómica recesiva, constituida por placas queratósicas numulares en palmas y plantas, dolorosas y sin asociación a otra patología.

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Section: Wwwmedigraphicorgmxunclassified

Section: Figura 4: Mayor Aumento De Fotografía Anterior (Hande 10x)unclassified

Queratodermia palmoplantar hereditaria tipo Wachters. Comunicación de un caso

Otamendi¹,

Cepeda²,

Franco³

et al. 2021

Revista Del Centro Dermatológico Pascua

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“…This PPK form develops in infancy to early childhood. Focal (friction‐related) palmoplantar hyperkeratosis has also been reported, rarely with transgrediens appearance . Leukonychia, knuckle pads, pseudoainhum and spontaneous amputations are absent (Table ).…”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

“…Focal (friction-related) palmoplantar hyperkeratosis 12,13 has also been reported, rarely with transgrediens appearance. 6,14,15 Leukonychia, knuckle pads, pseudoainhum and spontaneous amputations are absent ( Table 2). Palmoplantar keratoderma with deafness due to MTTS1 gene mutation This form of PPK with deafness is maternally inherited as it is caused by a mutation in the mitochondrial MTTS1 gene 16,17 (Table S1), encoding the mitochondrial tRNA for serine (UCN).…”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Guerra

Castori²,

Didona

et al. 2018

Acad Dermatol Venereol

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Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Other genetic diseases, which may show palmoplantar involvement, such as selected subtypes of hereditary epidermolysis bullosa, various hereditary ichthyoses and other keratinization disorders, several ectodermal dysplasias and some multisystem genetic disorders, are also briefly summarized. PPK diagnosis is based on inheritance pattern, age at onset, morphology, distribution and severity of hyperkeratosis, pattern of additional dermatological and systemic manifestations and laboratory findings. Molecular analysis is at present the gold standard to confirm the diagnosis in PPK forms due to mutations in known causative genes. No specific and curative therapy is currently available for PPKs which highly impair patients' quality of life. Topical treatments are symptomatic and offer only temporary relief. Among systemic treatments, retinoids improve disease symptoms in the majority of patients.

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“…DNMs represent extremely rare genetic variants that contribute to sporadic genetic diseases, such as autism spectrum disorders (1,2), intellectual disability (3,4), epileptic encephalopathy (5–7), schizophrenia (8–10), mental retardation (4,11), amyotrophic lateral sclerosis (12,13), congenital heart disease (14), type 1 diabetes (15) and hearing loss (16,17). Recently, trio-based whole exome/genome sequencing (WES/WGS) was found to be the best way to identify DNMs in probands with the rise of next-generation sequencing.…”

Section: Introductionmentioning

confidence: 99%

mirDNMR: a gene-centered database of backgroundde novomutation rates in human

Jiang

Liu

et al. 2016

Nucleic Acids Res

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De novo germline mutations (DNMs) are the rarest genetic variants proven to cause a considerable number of sporadic genetic diseases, such as autism spectrum disorders, epileptic encephalopathy, schizophrenia, congenital heart disease, type 1 diabetes, and hearing loss. However, it is difficult to accurately assess the cause of DNMs and identify disease-causing genes from the considerable number of DNMs in probands. A common method to this problem is to identify genes that harbor significantly more DNMs than expected by chance, with accurate background DNM rate (DNMR) required. Therefore, in this study, we developed a novel database named mirDNMR for the collection of gene-centered background DNMRs obtained from different methods and population variation data. The database has the following functions: (i) browse and search the background DNMRs of each gene predicted by four different methods, including GC content (DNMR-GC), sequence context (DNMR-SC), multiple factors (DNMR-MF) and local DNA methylation level (DNMR-DM); (ii) search variant frequencies in publicly available databases, including ExAC, ESP6500, UK10K, 1000G and dbSNP and (iii) investigate the DNM burden to prioritize candidate genes based on the four background DNMRs using three statistical methods (TADA, Binomial and Poisson test). As a case study, we successfully employed our database in candidate gene prioritization for a sporadic complex disease: intellectual disability. In conclusion, mirDNMR (https://www.wzgenomics.cn/mirdnmr/) can be widely used to identify the genetic basis of sporadic genetic diseases.

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R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma

Cited by 8 publications

References 36 publications

Queratodermia palmoplantar hereditaria tipo Wachters. Comunicación de un caso

Queratodermia palmoplantar hereditaria tipo Wachters. Comunicación de un caso

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

mirDNMR: a gene-centered database of backgroundde novomutation rates in human

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