Publications by authors named "Dieterich Klaus"
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFArthrogryposis multiplex congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. In this article we will present the results of our study aimed at evaluating the correlation between muscle fat infiltration on MRI and activity deficiencies and limitations in children with AMC.
View Article and Find Full Text PDFAlazami syndrome is an autosomal recessive disease characterized by global developmental delay, growth restriction, and distinctive facial features. Fewer than 50 individuals are currently reported with biallelic loss of function variants in LARP7. We report the case of a 3.
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- Xq28 int22h-1/int22h-2 duplication results from recombination between specific genetic repeats and is linked to a form of intellectual disability along with recurrent infections and atopic diseases.
- In a study involving 15 families, many carriers exhibited mild or no symptoms, suggesting that the condition can manifest variably.
- The findings point towards potential incomplete penetrance, meaning not all carriers show obvious signs of the condition, indicating a need for further research to understand the genetic implications better.
Article Synopsis
- The study aimed to create standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC) to support international clinical research and multisite studies.
- A mixed-methods approach was used, involving focus groups and Delphi surveys, with participation from 45 experts and individuals with AMC experience from 11 countries.
- The resulting CDEs include 321 data elements and 19 measures, which will enhance data collection on AMC and promote collaborations, knowledge sharing, and better understanding of the condition through systematic research.
Article Synopsis
- The study aims to create a new AI-based model for identifying Kabuki Syndrome (KS) from 2D facial photos, differentiating between its two types: KS1 (KMT2D-related) and KS2 (KDM6A-related).
- Utilizing over 1,400 facial images from 634 patients and controls, researchers incorporated machine learning techniques, specifically XGboost, for improved predictive accuracy.
- The proposed model achieved an impressive accuracy of 95.8% in identifying KS and showed better performance than existing AI solutions and expert evaluations.
Article Synopsis
- Weill-Marchesani syndrome (WMS) is a genetic disorder marked by short stature, brachydactyly, joint limitations, and specific eye abnormalities like spherophakia and ectopia lentis. Cardiovascular issues can also occur. It has both dominant and recessive genetic forms caused by mutations in different genes.
- A study involved 61 patients, including 18 from new research and 43 from existing literature, assessing the correlation between their genetic variations and clinical features. It was found that the majority exhibited eye anomalies and a significant portion had short stature and valvulopathy.
- The research indicates that while eye abnormalities are crucial for diagnosing WMS, its overall symptoms appear more
Article Synopsis
- Sheldon-Hall syndrome (SHS), also known as distal arthrogryposis 2B (DA2B), is a rare condition marked by joint contractures and mild facial abnormalities, linked to mutations in specific muscle-related genes.
- A 16-year-old boy with severe kyphoscoliosis and respiratory issues, along with family members exhibiting milder symptoms, underwent a thorough diagnostic process that included physical exams, MRI, and genetic testing.
- Findings revealed a significant TNNT3 gene mutation in the boy, marking the first reported instance of neurogenic features in a DA2B patient, prompting questions about how developmental issues in fetal life might influence these symptoms and the role of genetic factors in SHS.
Article Synopsis
- Oculo-auriculo-vertebral spectrum (OAVS) is a common cause of congenital head and neck malformations in children, characterized by a variety of defects including ear anomalies, facial asymmetry, and ocular problems, often linked to genetic factors.
- An international study of 17 OAVS patients identified a significant genetic microduplication, revealing a critical region associated with these malformations and highlighting the severity of ear deformities in affected individuals.
- Research using zebrafish models showed that overexpression of the implicated gene impacts early craniofacial development, underscoring the importance of correct gene dosage for proper formation of facial structures.
Article Synopsis
- A recent study focuses on patients with a microduplication in the 19p13.3 region, linked to issues like growth delays, small head size, and developmental delays.
- The research analyzes a large cohort of 24 patients using advanced genomic techniques to better understand the genetic basis of this syndrome.
- The study identifies a new critical region (CR 1) associated with the duplication, which affects gene interactions critical for normal developmental processes, particularly related to head size.
Article Synopsis
- - Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a serious birth defect often linked with other abnormalities, but genetic testing only confirms a diagnosis in a small percentage of cases.
- - In a study involving 67 patients, only 11 (16%) received a definitive or probable genetic diagnosis, indicating that the reasons behind EA/TEF may be more complex and involve multiple genetic and environmental factors.
- - The research identified specific genetic variants related to certain genes (like TCF4 and FANCA) that may contribute to the EA/TEF conditions, providing new insights into its development.
Common data elements and minimum data sets in cerebral palsy: Start small to grow big.
Dev Med Child Neurol
December 2022
Article Synopsis
- This commentary reflects on the key points and findings discussed in the original article by Wilson et al., which spans pages 1470 to 1476 in the current issue.
- The authors of the commentary aim to provide additional insights and analyses that enhance the understanding of the original research.
- Overall, this discussion highlights the significance of the findings presented by Wilson et al. and their implications for the broader field of study.
Article Synopsis
- * This study focused on diagnosing 11 Pakistani families with various HNDs using next-generation sequencing (NGS) to identify genetic variants responsible for their conditions.
- * Researchers uncovered four new genetic variants and confirmed five known variants, highlighting a potential common mutation in the Pakistani population that could simplify future genetic screenings.
Article Synopsis
- Wiedemann-Steiner syndrome (WDSTS) is an intellectual disability condition with features like short stature and hypertrichosis cubiti, caused by mutations in a specific gene.
- The syndrome can present with a wide range of symptoms, making diagnosis challenging, especially in less typical cases.
- Researchers identified a unique DNA methylation episignature in patients, which can help classify genetic variants related to WDSTS and potentially provide better diagnostic insight and understanding of the syndrome's molecular causes.
Article Synopsis
- Arthrogryposis multiplex congenita (AMC) is a condition characterized by congenital contractures in multiple body areas, with over 400 possible underlying causes, making accurate diagnosis difficult.
- A study at Grenoble University Hospital, including 125 pediatric patients, found that 66% received a definitive diagnosis, with common types being Amyoplasia and distal arthrogryposis.
- The researchers recommend a two-step diagnostic approach using non-invasive methods for initial classification, followed by targeted investigations, while suggesting the use of next-generation sequencing to improve management and reduce reliance on invasive procedures.
Article Synopsis
- Kabuki syndrome (KS) is a rare genetic disorder linked to mutations in the KMT2D and KDM6A genes, causing two types: KS1 and KS2.
- The study aimed to identify differences in facial morphology between KS1 and KS2 using a facial-recognition algorithm, comparing images of individuals from a specific ethnicity.
- Results showed a statistically significant difference in facial characteristics between the two types, validated by trained clinical geneticists, highlighting the algorithm's effectiveness in distinguishing KS1 and KS2.
Article Synopsis
- Multiple pterygium syndrome (MPS) is a rare genetic disorder causing joint issues and distinctive facial features, with two main types: lethal and nonlethal, both often leading to spine deformities like scoliosis.
- A study involved 12 patients from 11 families, with molecular diagnoses confirmed in seven, showing varying degrees of scoliosis severity, from mild to malignant.
- Treatment approaches included bracing and spine casting, but more severe cases may require non-fusion spinal instrumentation; ongoing monitoring is crucial for managing their condition.
Article Synopsis
- - Arthrogryposis multiplex congenita (AMC) is a condition with non-progressive congenital contractures affecting multiple body areas, and about 20% of affected children also experience scoliosis, which is a significant spinal curvature.
- - Researchers explored the DECIPHER database for genetic mutations associated with both AMC and scoliosis, identifying only two patients with shared characteristics and highlighting specific genes with copy number variations (CNVs) related to both conditions.
- - A total of 227 genes were found to be associated with AMC and scoliosis, pointing to diverse cellular functions such as gene regulation and growth factors, paving the way for future genomic research to identify potential treatments and prognostic markers.
Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.
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- The nuclear envelope (NE) in eukaryotic cells separates the nucleus from the cytoplasm, and disruptions to its structure can lead to various serious human disorders known as nuclear envelopathies.
- Mutations in the TOR1AIP1 gene, which encodes the LAP1B component of the NE, are linked to differing clinical outcomes including muscular dystrophy and other multi-systemic disorders, but the exact relationships are still unclear.
- This study presents a new TOR1AIP1 case with childhood-onset muscle weakness and identifies a specific mutation that affects the LAP1B isoform, suggesting that specific mutations can lead to distinct phenotypes affecting muscle and other body systems.
Article Synopsis
- - Arthrogryposis multiplex congenita (AMC) involves congenital joint contractures affecting at least two joints, with two main types: one linked to various diseases and the other where arthrogryposis is the primary symptom.
- - The two specific forms of AMC include Amyoplasia (severe muscle absence) and distal arthrogryposis (which has a genetic link).
- - Treatment goals differ for upper and lower limbs, focusing on enabling grasping and limited ambulation instead of maximizing movement, with a multidisciplinary approach that requires family cooperation for effective rehabilitation strategies.