Eur J Med Genet. 2025 Jun 6:105026. doi: 10.1016/j.ejmg.2025.105026. Online ahead of print.
ABSTRACT
BACKGROUND: The Alpha Thalassemia mental Retardation syndrome, X-linked (ATR-X syndrome, MIM: 301040 ) is a rare genetic disorder characterized by alpha thalassemia, intellectual disability, peculier facial characteristics and genital abnormalities. Detailed information regarding the clinical phenotype is lacking.
AIMS: Detailed descriptions of the clinical phenotype are rare. The aim of this study was to describe the clinical phenotype of ATR-X syndrome.
METHODS: Data was collected through questionnaires, interviews, physical examination and the study of medical records.
RESULTS: Twenty-two individuals, aged 2-68 years old, were included. Three individuals were deceased at the time of the study. The individuals had a variable degree of intellectual disability. Alpha thalassemia was found in 30% and genital abnormalities in 70% of the individuals. First clinical signs of the syndrome were most frequently feeding problems, started in the neonatal period in the majority. Other main reported health problems were reflux (59%), constipation (72%), periods of anorexia and adipsia (45%), heart defects (28%), epilepsy (33%), scoliosis/kyphosis (48%), visual impairment (61%) and hearing loss (38%). Behavioral problems (86%) and sleeping problems (64%) also occurred frequently.
CONCLUSION: We report on the largest cohort of clinically studied individuals with ATR-X syndrome, including the eldest individuals, reported to date. Clinical knowledge is essential to improve care and to evaluate future therapies for this group.
PMID:40484370 | DOI:10.1016/j.ejmg.2025.105026
