Ann Lab Med.  2019 Sep;39(5):503-506. 10.3343/alm.2019.39.5.503.

Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia

• Brajadenta GS
• Utari A
• Patri S
• Bilan F
• Faradz SM
• Kitzis A
• Thoreau V

• KMID: 2450977
• DOI: http://doi.org/10.3343/alm.2019.39.5.503

Abstract

No abstract available.

MeSH Terms

CHARGE Syndrome*
Humans
Indonesia*

Figure

• 

  Fig. 1 Pathogenic CHD7 variant identified as the genetic cause of CS in an Indonesian patient. (A) Heterozygous nucleotide substitution at NM_017780.3:c.7234G>T identified by NGS. (B) Sanger sequencing confirmed a de-novo heterozygous nucleotide substitution (c.7234G>T) in exon 34 of CHD7. This change resulted in a premature stop codon (p.Glu2412Ter).Abbreviations: CS, CHARGE syndrome; NGS, next-generation sequencing.

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