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The New England Journal of Medicine Mar 2022
Topics: Humans; Intellectual Disability; Micrognathism; Ribs
PubMed: 35353972
DOI: 10.1056/NEJMc2117812 -
The New England Journal of Medicine Mar 2022
Topics: Humans; Intellectual Disability; Micrognathism; Ribs
PubMed: 35353971
DOI: 10.1056/NEJMc2117812 -
BMJ Case Reports Apr 2022
Topics: Humans; Maxilla; Maxillary Sinus; Micrognathism; Sjogren's Syndrome
PubMed: 35393283
DOI: 10.1136/bcr-2022-249659 -
Genes Dec 2023Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb... (Review)
Review
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. The majority of the described causes of Nager syndrome include pathogenic variants in the gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases. The diagnosis is made on the basis of physical and radiological examination and detection of mutations in the gene. Due to the diversity of defects associated with Nager syndrome, patients require multidisciplinary, complex, and long-lasting treatment. Usually, it starts from birth until the age of twenty years. The surgical procedures vary over a patient's lifetime and are related to the needed function. First, breathing and feeding must be facilitated; then, oral and facial clefts should be addressed, followed by correcting eyelid deformities and cheekbone reconstruction. In later age, a surgery of the nose and external ear is performed. Speech and hearing disorders require specialized logopedic treatment. A defect of the thumb is treated by transplanting a tendon and muscle or transferring the position of the index finger. In addition to surgery, in order to maximize a patient's benefit and to reduce functional insufficiency, complementary treatments such as rehabilitation and physiotherapy are recommended. In our study, we describe eight patients of different ages with various cases of Nager syndrome. The aim of our work was to present the actual genetic knowledge on this disease and its treatment procedures.
Topics: Child; Humans; Young Adult; Adult; Mandibulofacial Dysostosis; Cleft Palate; Micrognathism; Syndrome; RNA Splicing Factors
PubMed: 38254920
DOI: 10.3390/genes15010029 -
European Journal of Medical Genetics Nov 2022Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic... (Review)
Review
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders registry by 2021. Pathogenic variants of ARID1A account for 7-8% of cases with CSS phenotype. Malignancy has been previously reported in six individuals with CSS associated with BAF mutations. Two of these malignancies including one acute lymphoid leukemia and one hepatoblastoma were reported in ARID1A-associated CSS (ARID1A-CSS). Alterations in ARID1A are among the most common molecular aberrations in human cancer. Somatic deletion of 1p and specifically of 1p36.11 containing ARID1A is frequently seen in hepatoblastoma and has been associated with high-risk features. Here we report a child with CSS Phenotype and a novel de novo variant of ARID1A with hepatoblastoma. Because hepatoblastoma has an incidence of 1 per million children, the presence of hepatoblastoma in 2 of 30 known cases of ARID1A-CSS is significant. ARID1A-CSS should be included among the cancer predisposition syndromes associated with an increased risk of hepatoblastoma and tumour surveillance considered for these patients. The role of ARID1A in the pathogenesis and outcome of hepatoblastoma deserves further investigation.
Topics: Abnormalities, Multiple; Child; DNA-Binding Proteins; Face; Hand Deformities, Congenital; Hepatoblastoma; Humans; Intellectual Disability; Liver Neoplasms; Micrognathism; Neck; Transcription Factors
PubMed: 36049608
DOI: 10.1016/j.ejmg.2022.104600 -
Clinical Genetics Sep 2023Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients.
Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients.
Topics: Humans; Syndrome; Abnormalities, Multiple; Intellectual Disability; Micrognathism; Hand Deformities, Congenital; Neck; Pigmentation
PubMed: 37166055
DOI: 10.1111/cge.14356 -
JPMA. the Journal of the Pakistan... Apr 2023Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features,...
Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features, causes repeated infections and is associated with developmental delays. Here, we report a newborn male with CSS from Baoding in the Hebei Province of China.
Topics: Infant, Newborn; Humans; Male; Intellectual Disability; Abnormalities, Multiple; Micrognathism; Hand Deformities, Congenital; Neck
PubMed: 37052010
DOI: 10.47391/JPMA.5157 -
The New England Journal of Medicine Mar 2022
Topics: Humans; Intellectual Disability; Micrognathism; Ribs
PubMed: 35353973
DOI: 10.1056/NEJMc2117812 -
American Journal of Orthodontics and... May 2023Mandibular micrognathism (MM) is an underdeveloped mandible resulting from complex interactions between genetic and environmental factors. Prior research focused mainly...
INTRODUCTION
Mandibular micrognathism (MM) is an underdeveloped mandible resulting from complex interactions between genetic and environmental factors. Prior research focused mainly on the genetic determinants of mandibular retrognathism, not necessarily reflecting micrognathism, thus supporting the need to study MM. This study aimed to explore the inheritance pattern and identify the candidate genes involved in the development and familial transmission of MM.
METHODS
Diagnosing probands with MM was based on clinical and lateral cephalometric data. The pedigrees were drawn for 11 identified families, 5 of whom accepted to undergo detailed data and biospecimen collection. These families included 15 MM and 13 non-MM subjects over 2-3 generations. The procedure involved the withdrawal of 5 mL of blood. Genomic DNA was isolated from blood cells to investigate protein-coding regions via whole exome sequencing. Standardized filtering steps were employed, and candidate genes were identified.
RESULTS
Most of the pedigrees suggested a Mendelian inheritance pattern and segregated in an autosomal-dominant manner. One of the families, which also underwent biospecimen, displayed an X-linked inheritance pattern of the trait. Genetic screening disclosed 8 potentially novel genes (GLUD2, ADGRG4, ARSH, TGIF1, FGFR3, ZNF181, INTS7, and WNT6). None of the recognized exonic regions were previously reported.
CONCLUSIONS
Eight novel genes were identified in association with MM in the largest number of families reported to date. The genes were X-linked in 1 family, a finding previously not observed in mandibular genetics.
Topics: Humans; Micrognathism; Malocclusion; Phenotype; Pedigree; Mandible; Malocclusion, Angle Class II; Repressor Proteins; Homeodomain Proteins
PubMed: 36581475
DOI: 10.1016/j.ajodo.2022.04.020 -
Journal of Human Genetics Sep 2019Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems....
Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. Now, large quantities of pathogenic genes of syndromic micrognathia have been revealed. However, how these different pathogenic genes could lead to similar phenotypes, and whether there are some common characteristics among these pathogenic genes are still unknown. In this study, we proposed a genetic-phenotypic classification of syndromic micrognathia based on pathogenic genes information obtained from Phenolyzer, DAVID, OMIM, and PubMed database. Pathogenic genes of syndromic micrognathia could be divided into four groups based on gene function, including cellular processes and structures, cell metabolism, cartilage and bone development, and neuromuscular function. In addition, these four groups exhibited various clinical characteristics, and the affected systems, such as central nervous system, skeletal system, cardiovascular system, oral and dental system, respiratory system and muscle, were different in these four groups. This classification could provide meaningful insights into the pathogenesis of syndromic micrognathia, and offer some clues for understanding the molecular mechanism, as well as guiding precise clinical diagnosis and treatment for syndromic micrognathia.
Topics: Humans; Mandible; Micrognathism; Phenotype; Syndrome
PubMed: 31273320
DOI: 10.1038/s10038-019-0630-4