Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/1537
Título: Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene
Outros títulos: Descrição de uma forma autossômica dominante de síndrome de Kabuki por mutação no gene MLL2
Autor: Santos, MI
Beleza-Meireles, A
Loureiro, S
Fonseca, M
Reis, CF
Rodrigues, F
Ramos, F
Ramos, L
Cardoso, E
Saraiva, JM
Palavras-chave: Síndrome de Kabuki
Data: 2013
Citação: Scientia Medica. 2013; 23 (1): 47-51
Resumo: Aims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three patients show the typical characteristics (facial appearance, musculoskeletal abnormalities, cognitive impairment, growth retardation and peculiar dermatoglyphic pattern) associated with other anomalies described in the syndrome (congenital heart disease and increased susceptibility to infections). Genetic studies revealed a nonsense mutation c.14710 C > T (p.Arg4904X) in the MLL2 gene in the three members of the family. Conclusions: With the description of another case of familial Kabuki syndrome, the authors wish to illustrate the autosomal dominant inheritance with variable expressivity, which are present in this situation, and to alert to the need for a rigorous clinical and molecular evaluation of the affected patient’s relatives, allowing appropriate genetic counseling.
Peer review: yes
URI: http://hdl.handle.net/10400.4/1537
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