Estudo genetico-clinico de individuos com caracteristicas da Sindrome Kabuki

AUTOR(ES)
DATA DE PUBLICAÇÃO

2000

RESUMO

The Kabuki (Niikawa- Kuroki) syndrome (KS), first and independent1y described in Japan in 1981 by Niikawa et a!. and Kuroki et ai., is a multiple congenital anomaly/mental retardation syndrome. This syndrome is characterized by a peculiar facies which resembles the Kabuki theatre make-up, with long palpebral fissures and eversion of lower lids, arched eyebrows, depressed nasal tip and prominent ears, mild to moderate mental retardation, postnatal growth retardation, skeletal abnormalities and dermatoglyphic anomalies. The incidence in Japan was estimated around 1 :32,000 newboms; the frequency of non-Japanese patients is not available, although the number of cases has been increasing each year. The etiology remains undetermined and most cases have been sporadic. In Brazil there have been a few reports of this condition, all of them corresponding to isolated descriptions. In order to better characterize KS among the children referred to the Department of Genetics, we applied strict clinical and laboratory criteria. Between June, 1998 and December, 1999, 18 patients were found to have KS. The molecular analysis of TUBA2 gene was included because some investigators have suggested that it could be related to this syndrome. Of 17 patients examined all of them did not have mutations of the TUBA2 gene, which had not confirmed the previous suggestion. Three females and seven males, most1y Caucasians, fulfilled the clinical criteria for KS. The remaining four females and four males were considered to have Noonan syndrome (3), Tumer syndrome (2), monosomy 18p (1). Two patients did not complete their clinical evaluation. Among the KS patients, 100% presented the peculiar facial aspect, besides mental retardation in different degrees, 80% had dermatoglyphic abnormalities, 60% had vertebral anomalies and 50% presented with short stature. There was no sex predilection, family history of other cases, parental consanguinity or familial recurrences suggesting that these cases occur sporadically. Taken together these data support the hypothesis that the etiology of KS results from a de novo mutation in a dominant gene. The clinical and laboratory assessment developed in our study is useful by characterizing patients with KS and should be applied to patients with clinical features suggestive of KS. The high degree of overlapping clinical features between KS and Noonan and Tumer syndrome, especially in patients with chromosome X rings, reinforces the necessity of a thorough evaluation when one of these conditions are contemplated as a possible diagnosis. Until a specific genetic marker is available, multicenter studies might contribute to a better characterization of KS

ASSUNTO(S)

genetica humana cromossomos humanos - anomalias anomalias humanas - aspectos geneticos deficiencia mental

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