Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies

ANO5‐associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype

“…Exome sequencing identified a heterozygous variant in exon 16 of ANO5 : c.1790G>T (p.Arg597Ile) [ENST00000324559.8]. This variant was previously reported in kindred of three patients with GDD 2 and was classified as pathogenic, according to American College of Medical Genetics and Genomics criteria (PS1 + PM1 + PM2 + PM6 + PP3 + PP5).…”

Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran

“…This mutation has been specified as a deleterious variant by bioinformatics analyses and structural modeling. Marechal et al ( 2019 ) reported a family with a novel ANO5 mutation: c.1790G>T (p.Arg597Ile). Jin et al ( 2017 ) identified a ANO5 gene mutation, c.1079G>A (p.Cys360Tyr), in a Chinese family with jaw infection and cementoma who suffered from purulent osteomyelitis‐like symptoms including purulent discharge from gum, tooth mobility, loss of teethes and insufficient healing after dental extraction without multiple fractures.…”

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

“…Gnathodiaphyseal dysplasia (OMIM # 166260 ) is a heritable bone disorder characterized by bone fragility, fibro-osseous lesions of the jaw bones and diaphyseal sclerosis of long bones ( Kuroda et al, 2019 ; Marechal et al, 2019 ; Riminucci et al, 2001 ). The genetic basis of gnathodiaphyseal dysplasia has been mapped to chromosome 11p14.3–15.1 that harbors a missense mutation of anoctamin 5 ( ANO5) gene and follows an autosomal dominant mode of inheritance ( Otaify et al, 2018 ).…”