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

Table 2 Overview of LRIG2 deficient patients (new and literature)

Patient^a	Recessive mutations		Facial phenotype	Urinary tract phenotype	Constipation	Wilms tumour	Ref.
	Allele 1	Allele 2
F 1.1	c.1230delA	c.1230delA	YES	YES	YES	NO	−17
F 1.2	c.1230delA	c.1230delA	YES	NO	NO	NO	−17
F 2	c.2088delC	c.1980–1981ins371	YES	YES	YES	NO	−17
F 3.1	c.2125C > T	c.2125C > T	YES	YES	YES	YES	−17
F3.2	c.2125C > T	c.2125C > T	YES	YES	Not known	NO	−17
NEW	c.2125C > T	c.2125C > T	NO	YES	NO	NO	This study
Hinman-Allen syndrome	c.1648C > T	c.2554A > T	NO	YES	NO	NO	−17

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