Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: LRIG2
Biallelic LRIG2 variants identified in 3 probands with Urofacial syndrome. One proband was identified due to megacystis visualized on ultrasound in late gestation. The other two proband presented at 4 and 5 years with vesicoureteral reflux, overactive bladder, mild renal impairment. A fourth proband presented at 7 years with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux. A homozygous LRIG2 nonsense was said to cause the vesicoureteral reflux and a homozygous LIG4 variants is believed to be responsible for other clinical features. Mouse model showed urinary defects resembling those found in urofacial syndrome.Created: 9 May 2022, 4:23 a.m. | Last Modified: 9 May 2022, 4:23 a.m.
Panel Version: 0.13967
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Urofacial syndrome 2, MIM# 615112
Publications
gene: LRIG2 was added gene: LRIG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRIG2 was set to Unknown