Alan Mighell
Disorders of biomineralization
Current understanding of the causes of dental biomineralisation defects is limited. Through autozygosity mapping we aim to identify genes critical to biomineralisation and test the hypothesis that these function in a common pathway. Recruitment of families from around the world is ongoing. Mutations in CNNM4, a putative divalent ion transporter have been identified as the cause of Jalili Syndrome, which is characterised by hypomineralised amelogenesis imperfecta and cone rod dystrophy leading to retinal degeneration. This discovery has given novel insight into two diverse tissue types. Investigation into other syndromic and non-syndromic forms of amelogenesis imperfecta is ongoing.
El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ (2009) Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet 85:699-705.
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF (2009). Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive
cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 84:266-73.
Last modified: 28 April 2010