Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype

Table 3 Overview of LIG4 syndrome patients (new and literature)

Patient^a	Recessive mutations		RS	Microcephaly	ID	Cytopenia	GR	DD	Malignancy	Other	Ref.
	Allele 1	Allele 2
180BR	p.R278H	p.R278H	YES	NK	NO	NK	NK	NO	Leukemia		−5
3703	p.R814X	p.R814X	YES	YES	NK	YES	YES	YES	Leukemia		−8
X	p.M249V	p.K524 fs20X	YES	YES	Mild	YES	YES	YES	EBV- BCL		−6
2303	p.R580X	p.R814X	YES	YES	Mild	YES	YES	NK	MDS	Hypothiroidism, type 2 DM, hypogonadism	−9
99P0149	p.G469E	p.R814X	YES	YES	Mild	YES	YES	YES	NO	Atypical bone maturation	−9
Case 1	p.delK588	p.delK588	ND	YES	Mild	YES	YES	NO	NO		−10
Case 2	p.delK588	p.delK588	ND	YES	Mild	YES	YES	NO	NO		−10
10 Patients(9 families)	p.R814X	Variable truncating mutations	YES	YES	Mild	YES	YES	7 YES/ 3 NO^b	NO	Skeletal abnormalities 6/10), primary ovarian failure (2/10), dysplastic kidney (2/10), anal atresia (1/10), corpus callosum dysgenesis (1/10)	−14
2304	p.R580X	p.R814X	YES	YES	Mild	NK	NO	NK	NO	Hypothiroidism, amenorrea	−9
411BR	p.R278H p.A3V, p.T9I	p.R278H p.A3V, p.T9I	YES	NO	Mild	YES	NO	YES	NO		−9
P1	p.H282L	p.K524 fs20X	YES	YES	SCID	YES	YES	NO	EBV- BCL		−7
Patient	S205L fsX29	K635R fsX10	YES	YES	SCID	YES	YES	YES	NO	Skeletal abnormalities, urethral valves, corpus callosum dysgenesis	−13
P-1	p.Q280R	p.K524 fs20X	YES	YES	SCID	NO	YES	NO	NO		−12
P-2	p.Q280R	p.K524 fs20X	YES	YES	SCID	NO	YES	NK	NO		−12
P2	p.H282L	p.K524 fs20X	YES	YES	SCID	NO	NO	YES	NO		−7
LIG4-1	p.delQ433	p.delQ433	YES	NO	SCID	YES	NO	NO	NO		−11
NEW	p.Y438H	p.Y438H	ND	YES	YES	YES	YES	YES	NO	Skeletal abnormalities, nail dystrophy	This study

GR Growth retardation, ID Immunodeficiency, DD Developmental delay, RS Radiosensitivity, NK Not known, ND Not determined, EBV-BCL EBV-associated B-cell lymphoma, DM Diabetes mellitus
^aNamed as reported in the single publications
^bNo association with the second mutation paired to p.R814X

ISSN: 1471-2350