A 2.0Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum

Masaki Takagi, Goro Sasaki, Toshikatsu Mitsui, Misa Honda, Yoko Tanaka, Tomonobu Hasegawa

研究成果: Article査読

11 被引用数 (Scopus)

抄録

We identified 2.0Mb of a novel deletion on chromosome 14q12, involving 8 genes and putative regulatory elements of FOXG1 by array CGH in a patient with severe growth and psychomotor retardation, hypotonia, microcephaly, dysmorphic face, and hypoplasia of the corpus callosum. Case of a submicroscopic 14q12 deletion, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, is extremely rare. Using fibroblast cell line established from the patient, we showed that the expression level of FOXG1 in our patient was decreased. Our finding provides additional evidence that not only over-dosage of FOXG1 as previously mentioned, under-dosage of FOXG1 is also associated with phenotype, overlapping between congenital variant of Rett syndrome with FOXG1 mutations and 14q12 microdeletion, not including the coding region of FOXG1. Though the gene dosage of FOXG1 appears to be critical for the normal development of brain, the complex mechanism of its regulation of gene expression remains to be elucidated.

本文言語English
ページ(範囲)526-528
ページ数3
ジャーナルEuropean Journal of Medical Genetics
56
9
DOI
出版ステータスPublished - 2013 9

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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