Amelogenesis imperfecta

A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

Gingival fibromatosis

The presence of fibrosis of the gingiva.


Total: 7

                       


(per page)
PMID (PMCID)
28298625
 MIXED_SAMPLE Child
Periodontal disease and FAM20A mutations.
Kantaputra PN, Bongkochwilawan C, Lubinsky M, Pata S, Kaewgahya M, Tong HJ, Ketudat Cairns JR, Guven Y, Chaisrisookumporn N.
J Hum Genet. 2017;62(7):679-686.
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles.
26389061
(4574056)
 OTHER
Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.
Bhesania D, Arora A, Kapoor S.
Imaging Sci Dent. 2015;45(3):181-5.
Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings.
25636655
(4327795)
 FEMALE Child
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
Cherkaoui Jaouad I, El Alloussi M, Chafai El Alaoui S, Laarabi FZ, Lyahyai J, Sefiani A.
BMC Oral Health. 2015;15:14.
Our finding confirms that the mutations of FAM20A gene are causative for amelogenesis imperfecta and gingival fibromatosis and underlines the recurrent character of the c.34_35delCT in two different ethnic groups.
25636655
(4327795)
 FEMALE Child
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
Cherkaoui Jaouad I, El Alloussi M, Chafai El Alaoui S, Laarabi FZ, Lyahyai J, Sefiani A.
BMC Oral Health. 2015;15:14.
We report, the first description of a Moroccan patient with amelogenesis imperfecta and gingival fibromatosis, in whom we performed Sanger sequencing of the entire coding sequence of FAM20A and identified a homozygous mutation in the FAM20A gene (c.34_35delCT), already reported in a family with this syndrome.
25636655
(4327795)
 FEMALE Child
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
Cherkaoui Jaouad I, El Alloussi M, Chafai El Alaoui S, Laarabi FZ, Lyahyai J, Sefiani A.
BMC Oral Health. 2015;15:14.
Recently, disease-causing mutations in the FAM20A gene were identified, in families with an autosomal recessive syndrome associating amelogenesis imperfecta and gingival fibromatosis.
24259279
 MIXED_SAMPLE Child
Enamel-renal-gingival syndrome and FAM20A mutations.
Kantaputra PN, Kaewgahya M, Khemaleelakul U, Dejkhamron P, Sutthimethakorn S, Thongboonkerd V, Iamaroon A.
Am J Med Genet A. 2014;164A(1):1-9.
The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A.
24259279
 MIXED_SAMPLE Child
Enamel-renal-gingival syndrome and FAM20A mutations.
Kantaputra PN, Kaewgahya M, Khemaleelakul U, Dejkhamron P, Sutthimethakorn S, Thongboonkerd V, Iamaroon A.
Am J Med Genet A. 2014;164A(1):1-9.
The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A.