Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion.
Gene
; 572(2): 274-8, 2015 Nov 10.
Article
en En
| MEDLINE
| ID: mdl-26210811
Cockayne Syndrome (CS) is an autosomal recessive disorder that causes neurological regression, growth failure and dysmorphic features. We describe a Chinese female child with CS caused by deletions of exon 4 of ERCC8 on one chromosome and exons 1-12 on the other chromosome. By using chromosomal microarray, multiplex ligation-dependant probe analysis and long range PCR, we showed that she inherited a 277 kb deletion affecting the whole ERCC8 gene from the mother and a complex rearrangement resulting in deletion of exon 4 together with a 1,656 bp inversion of intron 4 from the father. A similar complex rearrangement has been reported in four unrelated Japanese CS patients. Analysis of the deletion involving exon 4 identified LINE and other repeat elements that may predispose the region to deletions, insertions and inversions. The patient also had insulin-dependent diabetes mellitus, a rare co-existing feature in patients with CS. More research will be needed to further understand the endocrine manifestations in CS patients.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
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Cromosomas Humanos Par 4
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Eliminación de Secuencia
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Síndrome de Cockayne
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Enzimas Reparadoras del ADN
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Inversión de Secuencia
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Gene
Año:
2015
Tipo del documento:
Article
Pais de publicación:
Países Bajos