Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Table 5 Summary of the characteristics of genes connected in the “Gene expression, cellular growth and proliferation, tissue development” network

Gene symbol	Gene name	Exonic variant type	Accession number	Amino acid change	Inheritance
PAIS
AR	Androgen receptor	Missense	NM_000044	p.R841H	Mother
Candidate gene approach
ERBB2	Erb-b2 receptor tyrosine kinase 2	Missense	NM_001005862	p.P1140A	Father/de novo
Whole-exome approach
ADHFE1	Alcohol dehydrogenase, iron containing, 1	Stop gain	NM_144650	p.R6X	NV
AHNAK2	AHNAK nucleoprotein 2	Stop gain	NM_138420	p.W4640X	NV
BTN3A3	Butyrophilin, subfamily 3, member A3	Stop gain	NM_006994	p.Trp171X	NV
CHMP2B	Charged multivesicular body protein 2B	Stop gain	NM_014043	p.Arg22X	Father
DENND2D	DENN/MADD domain containing 2D	Stop gain	NM_024901	p.Arg16X	Mother
HYDIN	HYDIN, axonemal central pair apparatus protein	Frameshift del	NM_001270974	p.I3904fs	Father/mother
KALRN	Kalirin, RhoGEF kinase	Stop gain	NM_007064	p.Arg10X	Mother
MEP1A	Meprin A, alpha (PABA peptide hydrolase)	Stop gain	NM_005588	p.Q296X	Mother
SCCPDH	Saccharopine dehydrogenase (putative)	Frameshift ins	NM_016002	p.V55fs	NV
TGM4	Transglutaminase 4	Stop gain	NM_003241	p.W269X	Father
ZNF844	Zinc finger protein 844	Frameshift del	NM_001136501	p.L346fs	Mother

Gene content	Chromosomal aberration	Inheritance
SNP array
MIR650, MIR5571, IGLL5	22q11.22 (23,004,886–23,258,369) × 3	Father/mother

ISSN: 2523-3548