De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

Abstract

CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been shown to cause CHARGE syndrome. Here, we report the identification of a novel de novo p.Asp2119_Pro2120ins6 duplication variant in a conserved region of CHD7 in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.

Genomo persitvarkymai, esant įgimtiems centrinės nervų sistemos raidos sutrikimams: kilmė, genominiai mechanizmai, funkcinės ir klinikinės pasekmės. Darbų apžvalga

“…Re mian tis tria dos vi so eg zo mo sekos kai tos ty ri mu, nu sta ty ta li te ra tû ro je ne ap ra ðy ta de novo p.(Asp2119_Pro2120ins6) dup li ka ci ja kon ser va ty vio je CHD7 ge no sri ty je. Api bû din ti mo le ku li niai ir kli ni ki niai duo me nys [28]. Re zul ta tai gau ti ben dra dar biau jant su Loza nos uni ver si te to In teg ra ty vio sios ge no mi kos cen tro moks li nin kais (Lo za na, Ðvei ca ri ja).…”

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

“…It is important for each novel mutation that extends the spectrum of pathogenic mutations in the CHD7 gene to be included in the databases, to facilitate the diagnosis and estimate the prevalence of the disorder (3). Since the publication of the new criteria in 2016, only a few case reports discussing patients with CHARGE syndrome with a pathogenic mutation in the CHD7 gene, previously considered as atypical CHARGE, have been published (9,10). By understanding the different genotypes of CHARGE syndrome, it was possible to make clear genotype-phenotype associations for all CHD7 variants.…”