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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

  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]      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
  1. COF: Central Odontogenic Fibroma.
  2. Neg. US: Negative ultrasounds analysis.
  3. (+)/(−): cases positive vs. negative for the clinical features indicated. No sign: clinical features not mentioned or not investigated; + (1/2): positive in one case out of two; COF: Central Odontogenic Fibroma; 1Family previously described in Martelli-Junior et al.[32]; 2Two families previously described in Dellow et al.; Paula et al) [7, 13]; 3Family sequenced in Jaureguiberry et al.[17]; 4Family sequenced in O’Sullivan et al.[22].
  4. (Diagnosis element were highlight by boldface).