Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta

PloS One
Xin WangMan Qin

Abstract

Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB), while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16) in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11) in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X) in Family 3. Our...Continue Reading

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Citations

Nov 9, 2016·European Journal of Human Genetics : EJHG·Katarzyna B GostyńskaMarcel F Jonkman
May 5, 2017·Physiological Reviews·Rodrigo S LacruzMichael L Paine
May 26, 2016·European Journal of Oral Sciences·Young-Jae KimJung-Wook Kim
Nov 8, 2017·Journal of Medical Primatology·Ian TowleIsabelle De Groote
Aug 19, 2018·Clinical Oral Investigations·Youn Jung KimJung-Wook Kim
Mar 25, 2019·Journal of Dental Research·C E L SmithA J Mighell
Aug 17, 2019·Frontiers in Physiology·Daniel R GreenFelicitas B Bidlack
Apr 18, 2021·Oral Diseases·Shunlan YuShuguo Zheng

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Software Mentioned

Mutation Surveyor
SIFT
PyMOL
PyMOL Molecular Graphics System
CCP4MG
TASSER
SoftGenetics

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