Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations
An. bras. dermatol
;
92(5,supl.1): 154-158, 2017. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-887085
ABSTRACT
Abstract Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous family. The patients presented unique clinical features that were different from other known Inherited Palmoplantar Keratodermas -hearing loss syndromes. Mutations in GJB2 or GJB6 and the mitochondrial A7445G mutation, known to be the major causes of diverse Inherited Palmoplantar Keratodermas -hearing loss syndromes were not detected by Sanger sequencing. Moreover, the pathogenic mutation could not be identified using whole exome sequencing. Other known Inherited Palmoplantar keratoderma syndromes were excluded based on both clinical criteria and genetic analysis.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Ceratodermia Palmar e Plantar
/
Perda Auditiva Neurossensorial
/
Mutação
Tipo de estudo:
Estudo prognóstico
/
Fatores de risco
Limite:
Adolescente
/
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
An. bras. dermatol
Assunto da revista:
Dermatologia
Ano de publicação:
2017
Tipo de documento:
Artigo
País de afiliação:
Arábia Saudita
Instituição/País de afiliação:
King Abdulaziz University/SA
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