AI Article Synopsis
- * Most individuals with this syndrome are under 20 years old, which makes understanding long-term outcomes challenging.
- * The report includes two new cases, one of which involves a person in her 30s, and highlights novel mutations in the KMT2A gene, providing valuable insights for families affected by this condition.
Article Abstract
Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long-term prognosis is not well defined. Here we report on two further unrelated individuals diagnosed with Wiedemann-Steiner syndrome, one of whom is in her third decade of life. In addition, both individuals have novel KMT2A mutations. The information provided below about the outcome in Wiedemann-Steiner syndrome is important for families of affected individuals.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.60698 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
MLL/WDR5 complex recruits centriolar satellite protein Cep72 to regulate microtubule nucleation and spindle formation.
Sci Adv
December 2024
Laboratory of Cell Cycle Regulation, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad 500039, India.
Dysfunction of the centrosome, the major microtubule-organizing center of the cell, is implicated in microcephaly. Haploinsufficiency of mixed-lineage leukemia (MLL/KMT2A) protein causes Wiedemann-Steiner syndrome (WSS), a neurodevelopmental disorder associated with microcephaly. However, whether MLL has a function at the centrosome is not clear.
View Article and Find Full Text PDFSleep correlates of behavior functioning in Cornelia de Lange syndrome.
Am J Med Genet A
November 2024
Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland, USA.
Article Synopsis
- The study examines sleep behaviors in individuals with Cornelia de Lange syndrome (CdLS) caused by variants in two genes, NIPBL and SMC1A, which are linked to developmental delays.
- Caregivers of 31 individuals provided data showing that those with NIPBL variants exhibited more behavior regulation difficulties and repetitive behaviors compared to those with SMC1A variants.
- The research highlights a strong connection between sleep disturbances and behavior regulation challenges, particularly in the NIPBL group, suggesting that sleep interventions may help manage behavioral issues differently depending on the genetic variant.
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome.
Genes (Basel)
September 2024
Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.
Article Synopsis
- Wiedemann-Steiner syndrome (WSS) is a rare genetic condition linked to impaired gene expression due to mutations affecting chromatin proteins, leading to various developmental issues.
- A study focused on a 10-year-old girl with signs of WSS utilized whole exome sequencing (WES) and Sanger resequencing to identify a new mutation in the KMT2A gene, which is considered likely pathogenic.
- Computational modeling of the mutated protein indicated that this change could disrupt its functionality by altering its DNA binding capabilities, providing further insight into the genetic basis of WSS.
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.
Ital J Pediatr
September 2024
Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Article Synopsis
- This study investigates three chromatinopathies (Wiedemann-Steiner, Kleefstra, Coffin-Siris syndromes) known for similar symptoms like intellectual disability and growth issues, to explore their potential metabolic connections.
- Eleven patients participated in the study, where researchers conducted physical exams and assessed resting energy expenditure, finding no significant differences between these conditions and healthy controls.
- The findings highlight the importance of epigenetic factors in growth and neurodevelopment, suggesting that certain clinical features should be monitored in these syndromes, while emphasizing the need for further research into energy metabolism.
Trio-based whole exome sequencing in patients with ectopic posterior pituitary.
Front Pediatr
August 2024
Pediatric Endocrinology Unit, Pediatric Department, Irmandade da Santa Casa de Misericórdia de São Paulo and Santa Casa de Sao Paulo School of Medical Sciences, São Paulo, Brazil.
Introduction: Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved.
Objective: To search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!