. 2017 Nov 13;11(4):462–467. doi: 10.1093/ckj/sfx130

Table 1.

Clinical features of patients with variants in SGPL1

Features	(1)																			(2)								(3)			(4)		Total
Family	1			2		3			4				5					6	7	8			9	10	11		12	13		14	15
Patient	1	2	3	1	2	1	2	3	1	2	3	4	1	2	3	4	5	1	1	1	2	3	1	1	1	2	1	1	2	1	1	2
Mutation	a			b, c		d			e				f					g	h, i	d			d	j	k		a	l		m	n
Sex	M	M	F	F	F	M	M	M	F	F			F	F	F	F	F	F	M	M	M	M	M	F	M	F	F	M	M	M	M	F
Foetal diseases										FH	^g	^g	FH	FH	FH^g	FH,^g
Age at diagnosis	4 y	7 m	10 m	2 y	1 y	19 y	3 y	2 y	1 m				3 m	1 m			1 m	2 m	18 y	8 m	1 y	1 y	1 y	6 m	10 m	4 m	9 y	6 w	2 d	1 w	4 m	5 m
Age at renal transplant (years)		5	5/12&				8													5					?		5&
Age of death		8 y						2.9 y	5 m	2 m			6 m	1 m			3 m											7 w	3 m		1 y	3 y
Nephrotic syndrome	+	+	+	+	+	+	+	+	+	+			+	+			+	+	+	+	−	−	−	+	+	+	+	+	+	+	+	+	25/28
Adrenal deficiency	−	+^f	+	+	+	+	+	+	+				^f				^f	+	−	+	+	+	+	+	+ ^f	+ ^f	+	^f	^f	+ ^f	+	+	24/26
Skin abnormalities^a	+		+	+	+		+						+	+		+				+	+	+	+	+	+	+	+				+	−	17/18
Neurologic defects^b		+	−				+		+				+	+			+	+	+	−	−	−	−	+	+	+	−				−	−	11/19
Immunodeficiency^c		+							+				+	+			+	+	+				+	+	+						−	−	10/12
Hypothyroidism													+				+	+	−					+	+	+	+				−	−	7/10
Genital abnormalites^d																									+			+	+	+	−	−	4/6
Skeletal abnormalities^e		+	+				+																								−	−	3/5
Muscular hypotonia													+	+																	−	−	2/4

(1) Lovric et al. [8]; (2) Prasad et al. [9]; (3) Janecke et al. [10]; (4) this report.

Mutations: a, p.Ser3Lysfs*11; b, p.Ile88Thrfs*25; c, p.Arg278Glyfs*1; d, p.Arg222Gln; e, p.Arg222Trp; f, p.Ser346Ile; g, p.Tyr416Cys; h, p.Ser202Leu; i, p.Ala316Thr; j, p.Phe545del; k, p.Ser65Argfs*6; l, p.Arg505*; m, p.Leu312Phefs*30; n, p.Arg340Trp.

M, male; F, female; FH, fetal hydrops; m, months; y, years; w, weeks; d, days; ?, patient had renal transplantation, but the age at which it was performed was not specified; &, performed a retransplant.

+, present; −, absent; blank, not reported.

Skin abnormalities include ichthyosis, acanthosis, hyperpigmentation, scaly lesions and calcinosis cutis.

Neurologic defects include developmental delay, ptosis, strabismus, abnormal gait, ataxia, sensorineural deafness, seizures, microcephaly, corpus callosum hypoplasia, peripheral neuropathy, contrast enhancement of cerebellar structures and bilateral globus pallidus, medial thalamic nucleus and central pons.

Immunodeficienies include lymphopenia, deficiency of cellular immunity, multiple bacterial infection, hypogammaglobulinemia, thrombocytopenia and anemia.

Genital abnormalities include cryptorchidism and hypogonadism.

Skeletal abnormalities include craniotabes, rachitic rosary, asymmetric skull, scoliosis and short stature.

Adrenal calcifications.

Fetal demise.