Table 3.

Phenotypic characterization of mutations in SGPL1.

Mutation	Deaths	SRNS	PAI	Hypothyroidism	Gonadal dysfunction	Ichthyosis	Neurological features	Immunodeficiency
p.S3Kfs*11	1/4	+	+	+	–	+	±	±
c.261+1G>A	–	+	+	+	+	+	+	+
p.E132G¥	–	+	+	–	–	+	–	–
$\text{p.N171D}$	1/1	+	+	+	+	+	+	+
p.I184T†	–	–	–	–	–	–	+	–
p.S202LΨ	–	+	–	+	–	–	+	+
p.R222W	2/2	+	+	–	–	–	±	±
p.R222Q	1/9	+	+	–	–	–	+	±
p.R278Gfs*17¥	–	+	+	–	–	+	–	–
p.F290Lδ	1/1	+	+	+	+	+	+	+
p.L312Ffs*30	–	+	+	–	+	–	–	–
p.A316TΨ	–	+	–	+	–	–	+	+
p.Y331*δ	1/1	+	+	+	+	+	+	+
p.R340W	2/2	+	+	+	–	–	–	–
p.S346I	3/3	+	+	+	–	+	+	+
p.S361*†	–	–	–	–	–	–	+	–
p.F411Lfs*56	1/1	+	+	+	+	–	+	+
p.Y416C	–	+	+	+	–	–	+	+
p.R505*	2/2	+	+	–	+	–	–	–
p.F545del	1/1	+	+	+	–	+	+	+

^¥†Ψδdenotes compound heterozygous mutations.

Sources of published mutations: Lovric et al. (1), Prasad et al. (2); Atkinson et al. (4); Bamborschke et al. (5); Janecke et al. (6); Linhares et al. (7); Settas et al. (8); Taylor et al. (9).

Our patient's mutation is denoted in red. + denotes presence in all; ± denotes presence in some but not all patients; – denotes absence of clinical feature. Deaths reported all occurred at <10 years of age.