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Case Reports
. 2019 Sep;39(5):503-506.
doi: 10.3343/alm.2019.39.5.503.

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

Gara Samara Brajadenta  1   2 , Agustini Utari  3   4 , Sylvie Patri  5   6 , Frédéric Bilan  5   6 , Sultana Muhammad Hussein Faradz  3 , Alain Kitzis  5 , Vincent Thoreau  5
Affiliations
Case Reports

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

Gara Samara Brajadenta et al. Ann Lab Med. 2019 Sep.
No abstract available

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Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

Fig. 1
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.
See this image and copyright information in PMC

References

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