Prenatal diagnosis of a case with X-linked spondyloepiphyseal dysplasia tarda / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 598-600, 2013.
Artículo
en Chino
| WPRIM
| ID: wpr-237198
ABSTRACT
<p><b>OBJECTIVE</b>To analyze TRAPPC2 gene mutation in a family with X-linked spondyloepiphyseal dysplasia tarda and to provide genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>All of 4 exons of the TRAPPC2 gene and their flanking sequences in the proband and her father were analyzed with polymerase chain reaction and direct DNA sequencing. Genomic DNA of the probands' fetus was extracted from amniotic fluid sampled at 18th gestational week. Gender of the fetus was determined by the presence of SRY gene. The sequence of fetal TRAPPC2 gene was also analyzed.</p><p><b>RESULTS</b>A c.209G>A mutation was identified in exon 4 of the TRAPPC2 gene in the proband and her father. The fetus of was determined to be a male and also have carried the c.209G>A mutation.</p><p><b>CONCLUSION</b>A c.209G>A mutation of TRAPPC2 exon 4 probably underlies the clinical manifestations in this family. The proband is a carrier, and her fetus is a male carrying the same mutation. Prenatal diagnosis is an effective method for the prevention of the disease.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteocondrodisplasias
/
Diagnóstico Prenatal
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Embriología
/
Mutación Puntual
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Diagnóstico
/
Asesoramiento Genético
/
Genética
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Artículo
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