A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 68-72, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-345322
ABSTRACT
<p><b>OBJECTIVE</b>To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS).</p><p><b>METHODS</b>Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants.</p><p><b>RESULTS</b>The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein.</p><p><b>CONCLUSION</b>The patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Rótula
/
Anomalías Congénitas
/
Cromosomas Humanos Par 16
/
Secuencia de Bases
/
Reacción en Cadena de la Polimerasa
/
Salud de la Familia
/
Análisis de Secuencia de ADN
/
Disomía Uniparental
/
Complejo de Reconocimiento del Origen
/
Padre
Tipo de estudio:
Estudio pronóstico
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
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