Publications by authors named "L Pinson"
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery.
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- - The study investigates the increasing frequency of multiple molecular diagnoses (MMDs) in individuals with congenital anomalies/intellectual disability (CA/ID) through clinical exome/genome sequencing, highlighting rates between 1.8% to 7.1% previously documented.
- - Out of 880 positive exome sequencing diagnoses analyzed from 2014 to 2021, MMDs were found in 3.5% of cases, with additional potential MMDs identified in 4.4% of individuals, indicating their significance in disease comprehension.
- - Emphasizing the necessity for reanalysis of sequencing data and collaboration among clinicians and biologists, the study underlines the importance of updated clinical information and enhanced bio
Article Synopsis
- The PIK3CA-related overgrowth spectrum (PROS) includes conditions caused by mosaic variants in the PIK3CA gene, which can also lead to various cancers, including an increased risk of Wilms tumor (WT).
- A study of 267 PROS patients found a low overall cancer development rate of 2.2%, with an estimated 5.6% probability of cancer by age 45, suggesting the risk of WT in these patients is relatively low.
- The findings indicate that routine abdominal ultrasound for cancer detection in PROS might not be necessary, and more long-term studies are needed to better understand the risks of different cancers and their connection to PIK3CA variants.
Article Synopsis
- Haploinsufficiency of the TRIP12 gene causes Clark-Baraitser syndrome, a neurodevelopmental disorder featuring intellectual disability, epilepsy, autism spectrum disorder, and distinct facial features.
- The study analyzed 38 individuals with TRIP12 variants, identifying 35 different genetic mutations and observing global developmental delays, language deficits, and associated autistic traits in about half of the cases.
- Facial features characteristic of the syndrome were detailed using deep-learning algorithms, revealing traits such as deep-set eyes, downturned mouths, and prominent ears, which can aid in better counseling and management of affected individuals.
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.