Molecular basis for phenotypic similarity of genetic disorders

Abstract

The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1 , among individuals manifesting a novel syndrome that has phenotypes similar to those of Smith-Magenis syndrome (a disorder caused by disruption of RAI1 ). This study highlights how structural similarity among genes contributes to shared phenotypes, and shows how this relationship can contribute to our understanding of the genetic basis of complex disorders.

A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in the TCF20 gene, rarely concurrent immune disorders: a case report

“…In addition, they possess similar evolutionarily conserved functional domains, including N-terminal trans-activating domain, NLS, and zinc-finger domain, etc. The two proteins are highly similar to each other in both structure and function ( Babbs et al, 2014 ; Pounraja and Girirajan, 2019 ; Vetrini et al, 2019 ; Lévy et al, 2022 ). RAI1 can interact with TCF20 via the zinc-finger domain ( Babbs et al, 2014 ).…”

Speech Disorders of Genetic Origin in Teaching Practice

“…Etiologically, disorders of speech function can be congenital [16][17][18], acquired [12], or have a mixed nature, as in the case of the Landau-Kleffner syndrome [19], in which both education and the genetic components take place [20].…”

“…The following features are distinctive: delayed development, muscle tone reduction, congenital malformations of the cardiovascular system, hearing impairment, scoliosis, obesity, and convulsive syndrome [36]. The disease is caused by sporadic deletion of the 17p11.2 region, which contains the RAI1 gene [18].…”

Pedagogical Particularities in Correction of Speech Disorders Caused by Genetic Syndromes

“…Расстройства речевой функции этиологически могут быть врожденными [16][17][18], приобретенными [12] и иметь смешанную природу как в случае синдрома Ландау -Клеффнера [19], в этиологии которого отводится роль как воспалительному процессу, так и генетическому компоненту [20].…”

“…Характерны задержка развития, снижение мышечного тонуса, врожденные пороки сердечно-сосудистой системы, нарушения слуха, сколиоз, ожирение, судорожный синдром [36]. Заболевание вызывается спорадической делецией участка 17p11.2, в котором находится ген RAI1 [18].…”