Case Reports in Genetics

Case Report

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

Table 2

Details of the results of whole genome sequencing.


Gene and transcript	Variant	Chromosomal location	Associated diseases	OMIM entry no.	Zygosity	CADD score^†	dbSNP rsID^‡	Acmg classification	Inheritance

DIAPH1 NM_005219.5	Exon23 c.3145C > T p.R1049X	chr5-140908023G > A	Seizures, cortical blindness, and microcephaly	616632	Hom	37	rs863225243	Pathogenic	AR

Secondary findings
DNAJC3 NM_006260.5	Exon10 c.1129C > T p.R377X	chr13-96438246 C > T	Combined cerebellar and peripheral ataxia, hearing loss, and diabetes	616192	Het	40	rs1403662008	Likely pathogenic	AR

AMCG, American College of Medical Genetics; AR, Autosomal Recessive; Het, Heterozygous; Hom, Homozygous; OMIM, Online Mendelian ^Inheritance in Man.^† CADD score of 20 means that a variant is among the top 1% of deleterious variants in the human genome. A CADD score of 30 means that the variant is in the top 0.1% and so forth.^‡ All variants with dbSNP rsID numbers have minor allele frequencies less than 0.5% unless otherwise stated.