Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report

Table 2 Identified variants in this study

Gene/ Transcript (RefSeq)	Variant Location	Variant	Chromosome Position (GRCh37)	Zygosity^a	OMIM number^b	Inheritane Pattern^c	Variant Classification^d
MITF NM_198159.3	Exon 8	c.996delT p.K334Sfs*15	Chr3: 70,005,662	Het	193,510	AD	Pathogenic
MITF NM_198159.3	Exon 8	c.950G > A p.R317K	Chr3: 70,005,618	Het	193,510	AD	Likely pathogenic
SOX10 NM_006941.4	Exon 3	c.684delC p.E229Sfs*57	Chr22: 38,373,887	Het	609,136	AD	pathogenic
PAX3 NM_181459.4	Exon 7	c.1024_1040delAGCACGATTCCTTCCAA p.S342Pfs*62	Chr2: 223,084,992	Het	193,500	AD	Pathogenic

^aHet Heterozygous, ^bOMIM number Five-digit number assigned to each phenotype in Online Mendelian Inheritance in Man (OMIM) database, ^cAD Autosomal dominant. ^dBased on American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, 2015
* = termination codon

ISSN: 1471-2431