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Table 2 Overview of LRIG2 deficient 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 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
  1. aNamed as reported in single publications