A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy

Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family

“…Burns (1968) reported five families and two isolated cases (totalling 17 cases) in the USA. In the more recent literature the clinical description is often sparse, with emphasis placed on the genetic or histopathologic aspects of the disease (Snyder 1963;Kornzweig 1964;Kuwabara & Ciccarelli 1964;Alkemade & van Balen 1966;Yanoff et al 1977;Badr et al 1998;Coleman et al 1999;Corden et al 2000;Irvine et al 2002;Yoon et al 2004;Chen et al 2005;Nichini et al 2005). …”

Novel Mutations in the Helix Termination Motif of Keratin 3 and Keratin 12 in 2 Taiwanese Families with Meesmann Corneal Dystrophy

“…In recent years, several MCD mutation points have been reported worldwide. 11,13,14,[16][17][18] So far, except for one report of an insertion mutation at the position of 1222ins27 in KRT12, 18 all the reported MCD mutations are point mutations located within the conserved helix boundary motifs of the K3 and K12 proteins. To date, there was only one report in an Irish family with an amino acid substitution E509K within the helix termination motif of type II keratin K3.…”

“…Comparatively, there were more mutations reported within the helix initiation motif of type I keratin K12, including substitutions of amino acid R135T, 13 N133K, 15 V143L, 13 R135G, 11 R135I, 11 L140R, 11 I426V, 16 M129T, 17 and R135S. 18 Of particular interest here is that in comparison to the helix initiation mutation, there are fewer reported mutations in the helix termination motif, a region that is even more conserved in the keratin proteins. Those mutations at termination motif are E509K (K3) in an Irish family, 13 I426V (K12) in a US family, 16 Y429D (K12) in a Japanese family, 11 R503P (K3) in the Taiwanese family 1, and Y429C (K12) in the Taiwanese family 2 in the current study.…”

A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy

“…4,5 However, they do not indicate any common rule with regard to mutation point, age, or phenotype. No case of MECD with geographical opacity has been reported.…”