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

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

Patienta 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 NOb
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
  1. 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
  2. aNamed as reported in the single publications
  3. bNo association with the second mutation paired to p.R814X