Traumatic Effects on Epigenetic Aging Extends Across Generations: A Study of Holocaust Survivors and Their Descendants.
Authors: Shrira A, Cheishvili D, Scharf M, Palgi Y, Ayalon L, Bensimon M, Rosenbloom T, Bodner E, Szyf M, Yadid G
Journal: European Psychiatry
mental health
psychology
open access
Abstract
KBG syndrome is an uncommon autosomal dominant genetic disorder that is often misdiagnosed []. The etiology of this syndrome is due to pathogenic variants in the ANKRD11 gene []. KBG syndrome produces a unique combination of clinical and congenital findings that can be diagnosed from the initial physical examination, such as short stature and a unique appearance, including a triangular face, synophrys (fused eyebrows), hypertelorism (widely spaced eyes), bushy eyebrows, prominent ears, wide nasal bridge with a bulbous tip, and anteverted nares. These facial features also contain distinguishing dental findings that include a very long philtrum, thin vermilion border of the upper lip, and macrodontia (the syndrome's hallmark feature), which is present in the permanent maxillary centrals, especially the upper central incisors. In addition, skeletal anomalies (brachydactyly, clinodactyly, and scoliosis) as well as a large anterior fontanelle history with delayed closure can also be present. These patients can exhibit a wide range of neuropsychological conditions, including global developmental delay, expressive language impairment, and behavioral issues such as obsessions or anxiety. Additionally, other patients have been documented to suffer from seizure disorders as well as conductive, sensorineural, or mixed hearing loss, and structural brain abnormalities []. Currently, the diagnosis depends only on clinical criteria. However, whole exome sequencing (WES) plays an important role in the molecular confirmation of the diagnosis of individuals with mutations in the ANKRD11 gene []. Long-term prognosis for KBG syndrome is generally good, as it generally does not lead to life-threatening conditions. Early diagnosis is essential for providing individualized treatment and psychosocial support, which significantly improves the quality of life and long-term outcomes for children with KBG syndrome []. The case describes an 11-year-old Bahraini boy born at full-term (38 weeks gestation) via normal vaginal delivery to consanguineous parents. His birth weight was 3.11 kg, with unremarkable antenatal and postnatal complications. His family consists of four siblings with no history of neurodevelopmental delay.