RESUMEN
OBJECTIVE@#To analyze clinical features and genetic cause for a Chinese pedigree affected with microphthalmia.@*METHODS@#The proband and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Sanger sequencing was carried out to confirm the result of WES in available members from the pedigree. Prenatal diagnosis was provided to the proband's mother by genetic testing of amnionic DNA.@*RESULTS@#A heterozygous nonsense mutation c.289C>T (p.R97*) was identified in the OTX2 gene among three patients from the pedigree by WES. The result was confirmed by Sanger sequencing. The proband's mother has carried the same mutation but did not have microphthalmia. The proband's father, aunt and the mother's fetus did not carry the mutation.@*CONCLUSION@#The c.289C>T (p.R97*) mutation probably underlies the microphthalmia in this pedigree. Above result has facilitated genetic counseling and prenatal diagnosis.
Asunto(s)
Femenino , Humanos , Masculino , Embarazo , China , Microftalmía/genética , Mutación , Linaje , Diagnóstico Prenatal , Secuenciación del ExomaRESUMEN
Hallermann-Streiff syndrome [HSS] is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial [craniofacial] region; sparse hair [hypotrichosis]; eye abnormalities; dental defects; degenerative skin changes [atrophy], particularly in the scalp and nasal regions; and proportionate short stature. Here we describe a case with HSS
Asunto(s)
Humanos , Masculino , Enfermedades del Recién Nacido/genética , Catarata/genética , Microftalmía/genética , Nistagmo Congénito , Estrabismo/genéticaAsunto(s)
Atrofia , Ceguera/congénito , Encéfalo/patología , Consanguinidad , Sordera/congénito , Humanos , Lactante , Ligamiento Genético/genética , Magnesio/sangre , Masculino , Discapacidad Intelectual/genética , Microftalmía/genética , Desprendimiento de Retina/congénito , Cuerpo Vítreo/anomalías , Cromosoma X/genéticaRESUMEN
Este trabalho apresenta 5 casos de pacientes com associaçäo de malformaçöes oculares composta por coloboma, microftalmo e microcórnea. Os autores tentam estabelecer o diagnóstico genético em cada caso e apresentam os procedimentos oftalmológicos realizados no sentido de minmizar o déficit visual decorrente destas alteraçöes. Discute-se também as indicaçöes e as dificuldades encontradas para a realizaçäo destes procedimentos. Houve melhora da acuidade visual em todos os casos cirúrgicos