Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review.

ABSTRACT:

Background

Alpha-thalassemia/intellectual disability syndrome (ATR-X) (OMIM # 301040) was first described by Wilkie et al. (1). Several studies found that children who presented with significantly consistent clinical phenotypes of hemoglobin H (Hb H) disease and profound mental handicap carried ATRX chromatin remodeler (ATRX, OMIM^*300032) gene variants. With the recent development of exome sequencing (ES), ATRX gene variants of severe to profound intellectual disability without alpha-thalassemia have been implicated in intellectual disability-hypotonic facies syndrome, X-linked, 1(MRXHF1, OMIM #309580). These two diseases present similar clinical manifestations and the same pattern of inheritance.

Case presentation

We reported a 3-year-old boy

SUBMITTER: Cong Y 

PROVIDER: S-EPMC9015161 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature