Publications by authors named "Ariane Schmetz"
Clinical geneticists and syndromologists have traditionally focused on identifying syndromes in children. However, there is a growing acknowledgment of the need to describe adult phenotypes. This article provides an overview of the evolving phenotypes of rare genetic syndromes into adulthood, elucidating its challenges, opportunities, and future perspectives.
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- The study analyzes data from two groups of individuals with DDX3X variations, one from physicians (48 individuals) and the other from caregivers (44 individuals).
- The results reveal shared symptoms between the two groups, including previously unreported early childhood issues like feeding difficulties and delayed developmental milestones.
- The discussion emphasizes that both datasets complement each other, highlighting the importance of addressing symptoms such as ADHD, anxiety, and sleep disturbances in affected individuals.
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks.
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- NR2F2 (also known as COUP-TF2) is a transcription factor crucial for mammalian development, with rare variants linked to conditions like congenital heart disease (CHD) and congenital diaphragmatic hernia (CDH).
- This study reviews 17 new cases of individuals with heterozygous NR2F2 variants, confirming variability in clinical features, such as intrauterine growth restriction, heart defects, developmental delays, and various congenital anomalies.
- The findings showcase the need for better characterization of the phenotypic range associated with NR2F2 variants and potential clinical guidelines for diagnosis and evaluation.
Multiple synostoses syndrome (OMIM: #186500, #610017, #612961, #617898) is a genetically heterogeneous group of autosomal dominant diseases characterized by abnormal bone unions. The joint fusions frequently involve the hands, feet, elbows or vertebrae. Pathogenic variants in have been associated with multiple synostoses syndrome type 3 (SYNS3).
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- 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.
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intellectual disability (ID), behavioral abnormalities, facial dysmorphism and obesity (CHUJANS, OMIM #617991). So far, alterations appear to be a rare cause of DD/ID. "Omics" technologies such as exome sequencing or array analyses have led to the identification of distinct types of alterations of , including, truncating variants, missense substitutions, splice variants and large deletions encompassing portions of the gene or the entire gene as well as adjacent genomic regions.
View Article and Find Full Text PDFThe field of craniofacial malformations is comprehensive and does not allow to discuss all craniofacial malformations which have been described as single entities. Many of the syndromes with craniofacial malformations are ultrarare. In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome.
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- Lynch syndrome (LS), Lynch-like syndrome (LLS), and familial colorectal cancer type X (FCCX) are types of conditions that increase the chance of getting colorectal cancer (CRC).
- Researchers wanted to compare how likely people in each group are to develop adenomas (pre-cancerous growths) and CRC by studying data from a cancer registry.
- They found that while adenoma risks were similar across the groups, LS had the highest CRC risk, followed by LLS and FCCX, and that males and people with a history of adenomas had a greater risk overall.