Table 1 All reported cases with clinical features potentially describing Enamel Renal Syndrome
From: Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations
| Â | Number of reported | Oral phenotype | Kidney phenotype | Diagnosis reported | FAM20A mutation | |
|---|---|---|---|---|---|---|
Families | Cases | ERS pathognomic oral findings | Bilateral nephrocalcinosis | |||
MacGibbon [5] | 1 | 1 | + | + | Generalized enamel hypoplasia and renal dysfunction. | expected |
Chosack et al.[26] | 2 | 4 | + (1/2) | Not investigated | Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. | expected for family 2 only |
Lubinsky et al.[10] | 1 | 2 | + | + | Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. | expected |
Nakata et al.[28] | 1 | 2 | + | Not investigated | Interradicular dentin dysplasia associated with amelogenesis imperfecta. | expected |
Ooya et al.[27] | 1 | 1 | + | Not investigated | Autosomal recessive rough hypoplastic amelogenesis imperfecta. A case report with clinical, light microscopic, radiographic, and electron microscopic observations. | expected |
Van Heerden et al.[34] | 2 | 2 | + | Not investigated | Amelogenesis imperfecta: multiple impactions associated with odontogenic fibromas (WHO) type. | expected |
Peters et al.[32] | 1 | 1 | + | Not investigated | Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia. | expected |
Hall et al.[9] | 1 | 2 | + | + | Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings. | expected |
Phakey et al.[14] | Â | Â | Â | Â | Ultrastructural study of tooth enamel with amelogenesis imperfecta in AInephrocalcinosis syndrome. | |
Dellow et al.[7] | 1 | 2 | + | + | Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. | confirmed3 |
Raubenheimer and Noffke [38] | 1 | 1 | - | Not investigated | Enamel dysplasia, hamartomas. | not expected |
Normand de La Tranchade et al.[12] | 1 | 1 | + | + | Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. | expected |
Paula et al.[13] | 1 | 1 | + | + | Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. | confirmed3 |
Cetrullo et al.[6] | 1 | 2 | - | + | Two cases of familial hypomagnesemia with hypercalciuria and nephrocalcinosis: dental findings. | not expected |
Feller et al.[35] | 1 | 1 | + | Not investigated | Enamel dysplasia with odontogenic fibroma-like hamartomas: review of the literature and report of a case. | expected |
Fu et al.[39] | 1 | 1 | - | + | Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome? | not expected |
Elisabeth et al.[40] | 2 | 2 | + (1/2) | + | Amelogenesis imperfecta with renal disease--a report of two cases. | expected for case 1 only |
Feller et al.[31] | 1 | 1 | + | Not investigated | Enamel dysplasia hamartomatous atypical follicular hyperplasia: review of the literature and report of a case. | expected |
Roquebert et al.[33] | 1 | 1 | + | Not investigated | Amelogenesis imperfecta, rough hypoplastic type, dental follicular hamartomas and gingival hyperplasia: report of a case from Central America and review of the literature. | expected |
Martelli-junior et al.[30] | 1 | 4 | + | No history of renal pathology (but not investigated) | Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. | expected |
Martelli-Junior et al.[11] | 1 | 1 | + | + | Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature. | expected |
Dos Santos et al.[29] | 11 | 4 | + | Not investigated | Imaging evalution of the gingival fibromatosis and dental abnormalities syndrome. | confirmed4 |
Cho et al.[11] | 4 | 4 | + | Not investigated | Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. | confirmed |
Miloglu et al.[36] | 1 | 2 | + | Not investigated | Generalized familial crown resorptions in unerupted teeth. | expected |
Kala Vani et al.[16] | 1 | 1 | + | + | Enamel renal syndrome: a rare case report. | expected |
Hegde et al.[37] | 1 | 2 | + | Not investigated | Multiple Unerupted Teeth with Amelogenesis Imperfecta in Siblings. | expected |
O’Sullivan et al.[20] | 11 | 4 | + | Not investigated | Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. | confirmed |
Jaureguiberry et al.[17] | 162 | 25 | + | + | Nephrocalcinosis (Enamel Renal Syndrome) caused by autosomal recessive FAM20A | confirmed |
Wang et al.[18] | 3 | 5 | + | +(1/3) Family 2 | FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS) | confirmed |
Cabral et al.[22] | 1 | 12 | + | - | Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene | confirmed |
Wang et al.[23] | 2 | 3 | + | + (1/2) Neg. US in proband of Family 1 | FAM20A Mutations Associated with Enamel Renal Syndrome | confirmed |
Kantaputra et al.[21] | 2 | 2 | + | + | Enamel-Renal-Gingival Syndrome and FAM20A Mutations | confirmed |