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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Figure 4

Sequence chromatogram comparing wild type LYST sequence (top row) to sequence from proband, who was found to be homozygous for a pathogenic deletion in exon 43 of LYST (c.9827_9832ATACAA, bottom row). Homozygosity for this deletion was also confirmed in both clinically affected brothers. Both parents (II:3 and II:4) and both clinically unaffected brothers (III:10 and III:16) were confirmed as heterozygotes for the deletion.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172