Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability
Por:
Chacon-Camacho, Oscar F., Arce-Gonzalez, Rocio, Ordaz-Robles, Thania, Perezpeña-Diazconti M., Nava-Castaneda, Angel, Zenteno J.C.
Publicada:
1 ene 2020
Resumen:
Hereditary mucoepithelial dysplasia (HMD) is an uncommon autosomal dominant disease affecting skin, mucosae, hair, eyes, and lungs. Prominent clinical features include non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, and involvement of the conjunctival mucosa. To date, 20 familial or sporadic HMD cases have been described, most of them originating from Caucasian ethnic groups. In this study, a novel HMD pedigree, including an affected father and his daughter, is reported. Clinical expression showed significant differences in affected subjects, especially in the distribution and severity of skin lesions. Exome sequencing demonstrated that both affected subjects carried a heterozygous c.1669C>T (p.Arg557Cys) pathogenic variant in the SREBF1 gene. Our results improve the knowledge of the clinical and genetic features of HMD. In addition, a comparative review of the clinical features of all published HMD cases is presented. © 2020 Wiley Periodicals LLC.
Filiaciones:
Chacon-Camacho, Oscar F.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Faculty of Superior Studies-Iztacala, Department of Genetics and Molecular Biology, School of Medicine, Universidad Nacional Autónoma de México, Tlalnepantla, Estado de Mexico, Mexico
Inst Ophthalmol Conde de Valenciana, Dept Genet, Chimalpopoca 14, Mexico City 06800, DF, Mexico
Univ Nacl Autonoma Mexico, Fac Super Studies Iztacala, Sch Med, Dept Genet & Mol Biol, Tlalnepantla, Estado De Mexic, Mexico
Arce-Gonzalez, Rocio:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Inst Ophthalmol Conde de Valenciana, Dept Genet, Chimalpopoca 14, Mexico City 06800, DF, Mexico
Ordaz-Robles, Thania:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Inst Ophthalmol Conde de Valenciana, Dept Genet, Chimalpopoca 14, Mexico City 06800, DF, Mexico
Perezpeña-Diazconti M.:
Department of Pathology, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Nava-Castaneda, Angel:
Department of Orbit and Oculoplastics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Inst Ophthalmol Conde de Valenciana, Dept Orbit & Oculoplast, Mexico City, DF, Mexico
Zenteno J.C.:
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Faculty of Medicine, Department of Biochemistry, Universidad Nacional Autónoma de México, Mexico City, Mexico
Inst Ophthalmol Conde de Valenciana, Dept Pathol, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Fac Med, Dept Biochem, Mexico City, DF, Mexico
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