RESUMO
BACKGROUND: Autosomal dominant tricho-rhino-phalangeal syndrome I (TRPS I) is due to mutations in the TRPS1 gene. Tricho-rhino-phalangeal syndrome I is characterized by peculiar face and skeletal anomalies. Cone-shaped epiphyses are the characteristic radiographic findings. OBJECTIVE: To describe 2 families with TRPS I and 2 novel mutations in the TRPS1 gene. PATIENTS: The study included 2 nonrelated families with TRPS I. All exons of the TRPS1 gene were analyzed from genomic DNA. RESULTS: The TRPS1 gene mutation analysis showed in family 1 the c.978C>A nonsense mutation within exon 4 and in family 2 the c.164A>C missense mutation within exon 3. CONCLUSIONS: We found 2 families with TRPS1 caused by 2 novel mutations in the TRPS gene, particularly a missense mutation in exon 3, outside the GATA zinc finger domain, that leads a mild TRPS phenotype. Our data show a higher genotypic spectrum in the TRPS I and demonstrate that mutations in the amino terminus of the transcription factor result in TRPS I syndrome.
Assuntos
Códon sem Sentido/genética , Proteínas de Ligação a DNA/genética , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/genética , Síndrome de Langer-Giedion/diagnóstico , Síndrome de Langer-Giedion/genética , Mutação de Sentido Incorreto/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Feminino , Dedos/anormalidades , Humanos , Nariz/anormalidades , Proteínas RepressorasRESUMO
Several methods are used in clinical practice to investigate herpes simplex encephalitis (HSE), including electroencephalography (EEG) and polymerase chain reaction (PCR) of the viral genome in cerebrospinal fluid. PCR is the most sensitive and specific of the diagnostic methods currently employed. We retrospectively examined the diagnostic utility of EEG and cranial imaging within the first 24-48 h of symptom onset in patients with suspected HSE. Patients with herpes simplex-positive PCR results were compared with those with herpes simplex-negative PCR results. Periodic lateralized epileptiform discharges and/or focal temporal slowing were present in 90% of the PCR-positive patients at symptom onset compared with only 30% of the PCR-negative group. The sensitivity of EEG recordings decreased after 48 h. Although no patients had computed tomography findings suggestive of HSE, magnetic resonance imaging results were consistent with HSE in 86% of those with herpes simplex-positive PCR results obtained after 48 h from symptom onset.
