IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

Table 1 Summary of IL2 RG unique mutation* and comparison with hypomorphic mutations

Parameters	Total unique mutation	Total observed	Typical SCID	Atypical SCID	p value
Exons
Exon 1	12	15	13	2	0.6642
Exon 2	23	28	28	0	0.0574
Exon 3	47	72	68	4	0.1377
Exon 4	38	47	45	2	0.1998
Exon 5	38	106	87	19	0.0046**
Exon 6	19	36	34	2	0.4018
Exon 7	14	41	32	9	0.0253**
Exon 8	9	11	10	1^a	1.0000
Others^b	3	6	6	0	1.0000
Type of mutation
Missense	61	138	108	30	< 0.0001**
Nonsense	36	73	70	3	0.0533
Insertion	15	21	20	1	0.7113
Deletion	43	52	50	2	0.1386
Splicing	35	62	59	3	0.1692
Others^c	13	16	16	0	0.3929
Total	202	362	323	39

*Summary based on NCBI Clinvar database (http://www.ncbi.nlm.nih.gov/clinvar/), LOVD gene database [25] (http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=IL2RG) and OMIM database (http://www.omim.org/)
**Fisher’s exact test was used to analyze the association of exons or mutation type in the distribution of different clinical phenotypes (Typical SCID vs Atypical SCID) observed and p ≤ 0.05 was regarded as significant
^aPatient in the present study
^bIncludes large deletions
^cIncludes complex mutations, disruption of poly-A addition, variants within the first codon

ISSN: 1710-1492