{'fraction_non_alphanumeric': 0.03536977491961415, 'fraction_numerical': 0.05466237942122187, 'mean_word_length': 5.577464788732394, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome

Purpose: To identify disease associated mutations in a male infant with congenital heart defects and heterochromia. Methods: A detailed clinical examination and routine laboratory tests were performed on the patient. We applied whole exome sequencing to identify the causal mutation on the proband and other family members. Results: The patient presented with severe congenital heart disease, strabismus, and pigment disturbances of the iris. We identified a deletion of 1.99 megabase [arr[hg19]22q12.3-13.1 (chr22:36656004-38643920) *1], including SOX10 and 13 RefSeq genes on this patient, which was associated with atypical Waardenburg syndrome. Conclusion: Our results suggest that a deletion of 1.99 megabase (including SOX10) acts as a dominant pathogenic variant on the clinical presentations of this patient with atypical Waardenburg syndrome.