RESUMO
INTRODUCTION: Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormalities. It is caused by a microdeletion in chromosome 22q11.2. OBJECTIVES: We present 7 years of experience evaluating patients with VCFS regarding their main clinical characteristics. MATERIAL AND METHODS: The patients included were multidisciplinary evaluated and had a positive FISH analysis for del22q11.2. RESULTS: A total of 62 patients were assessed, a 34 female/28 male ratio was observed with ages ranging from 9 days to 16 years, all but one patient had typical facial features. A diagnosis of congenital heart disease was established in 97% of the patients; other clinical characteristics were identified with different percentages such as cleft palate, and hypocalcaemia. Three cases had a familial presentation. DISCUSSION: While the clinical findings of this study were in general terms in keeping with the literature, it is interesting the unexpectedly high percentage of congenital heart disease identified in Mexican children with VCFS that also was the main cause for clinical referral.
Assuntos
Síndrome de DiGeorge/etnologia , Cardiopatias Congênitas/complicações , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/genética , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/etnologia , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Masculino , México , Fenótipo , PrevalênciaRESUMO
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.