Genetic aetiology of primary adrenal insufficiency in Chinese children

BMC Medical Genomics

Table 2 Genotype–phenotype correlations in CAH patients

Group	Allele 1	Allele 2	Phenotype			Positive predictive value for the predicted phenotype (%)
Group	Allele 1	Allele 2	SW	SV	NC	Positive predictive value for the predicted phenotype (%)
Group 0	Del	Del	5	0	0	100%
	Del	R483PfsX58	1	0	0
	Del	R357W	1	0	0
	Del	L308FfsX5-Q319X-R357W	1	0	0
	Del	P31L- c.293-13C > G- E3 Δ8	1	0	0
	E3 Δ8-Q319X	c.293-13C > G- Q319X	1	0	0
	Q319X	L308FfsX5- Q319X	1	0	0
	R357W	E3 Δ8	1	0	0
Group A	c.293-13C > G	c.293-13C > G	6	2	0	83.3%
	c.293-13C > G	Del	5	0	0
	c.293-13C > G	E3 Δ8	2	1	0
	c.293-13C > G	R357W	2	0	0
	c.293-13C > G	R483PfsX58	2	0	0
	c.293-13C > G	E6 cluster	1	0	0
	c.293-13C > G	c.293-13C > G- E3 Δ8	1	0	0
	c.293-13C > G- E3 Δ8	G292S	0	1	0
	c.293-13C > G	c.1223-1G > A	1	0	0
Group B	I173N	I173N	0	5	0	84.6%
	I173N	Del	0	2	0
	I173N	c.293-13C > G	1	1	0
	I173N	E3 Δ8	0	2	0
	I173N	R483PfsX58	0	1	0
	I173N	L308FfsX6	1	0	0
Group C	V282L	I173N	0	0	1	Not applicable^a
	P31L	Del	0	1	0
	P31L	L308FfsX6	0	1	0
Group D	p.279GfsX17	I173N	0	1	0	Not applicable^b
	c.651 + 2 T > G	c.293-13C > G	1	0	0
	V305M	No pathologic mutations detected	0	0	1
	c.293-13C > G	No pathologic mutations detected	1	0	0
	R483PfsX58	No pathologic mutations detected	1	0	0
	No pathologic mutations detected	No pathologic mutations detected	2	0	0
Total	39	18	2

Del large fragment deletion, E3 Δ8 c.331_339delGAGACTAC, E6 cluster c. [7010T > A;713T > A;719T > A], p. [I237N; V238E; M240K]
^aThe positive predictive value for the expected phenotype was not calculated due to the small sample size
^bThe positive predictive value for the expected phenotype was not calculated because] enzyme activity was unable to predict novel mutations

ISSN: 1755-8794