Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of SaethreChotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype. (C) 2012 Wiley Periodicals, Inc.

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. (C) 2012 Wiley Periodicals, Inc.

Potencial evocado auditivo de média latência em crianças com dificuldades de aprendizagem

INTRODUÇÃO: Trata-se de uma semiologia laboratorial objetiva para avaliação do sistema auditivo de crianças com distúrbio de aprendizagem. OBJETIVO: Examinar os componentes do potencial evocado auditivo de média latência em uma amostra de crianças com distúrbio de aprendizagem e determinar suas propriedades. MÉTODO: O estudo realizado é do tipo prospectivo contemporâneo de corte transversal, quantitativo, descritivo e exploratório. 50 crianças de ambos os sexos com 8 a 14 anos de idade dividido em dois grupos iguais, com e sem distúrbio de aprendizagem. Causas orgânicas, ambientais ou genéticas foram excluídas do estudo. RESULTADOS E CONCLUSÃO: As ondas Na, Pa, Nb foram identificadas em todos os integrantes do estudo. Os valores de latência dos componentes foram Na= 19,2 ms, Pa= 32,5 ms, Nb= 46,4 ms (grupo controle) e Na= 19,7 ms, Pa= 35,1 ms, Nb= 49,6 ms (grupo pesquisa). O valor médio de amplitude Na-Pa foi 1,4 mV para ambos os grupos. As análises mostraram diferenças funcionais entre os grupos, foi observado o hemisfério esquerdo Nb latência mais longa de Nb no hemisfério esquerdo do grupo de estudo em relação ao controle. Tal estudo promoveu informações adicionais sobre PEAML e pode ser referência para outros estudos clínicos e experimentais nesta população.