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[Clinical characteristics and genetic analysis of three fetuses with Baraitser-Winter cerebrofrontofacial syndrome and Dystonia-deafness syndrome type 1 due to variants of ACTB gene].

OBJECTIVE: To study the clinical and genetic characteristics of three fetuses with Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) and … ypes included increased nuchal translucency/nuchal fold in 5 (33.3%), craniofacial anomalies (e.g., hypertelorism, microcephaly, cleft lip/palate) in 7 (46.7%), gastrointestinal anomalies in 6 (40.0%), urinary system abnormalites (e.g., hydronephrosis, renal cysts, pelviectasis) in 5 (33.3%), cardiovascular malformations (e.g., ventricular septal thickening, tr …

Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2.

In a process linked to DNA replication, duplicated chromosomes are entrapped in large, circular cohesin complexes and functional sister chromatid cohesion (SCC) is established by acetylation of the SMC3 cohesin subunit. Roberts Syndrome (RBS) and Warsaw Breakage Syndrome (WABS) are rare human developmental syndromes that are characterized by defective SCC. RBS is caused by mutations in the SMC3 acetyltransferase ESCO2, whereas mutations in the DNA helicase DDX11 lead to WABS. We found that WABS-derived cells predominantly rely on ESCO2, not ESCO1, for residual SCC, growth and survival. Recipro

Dental Anomalies Associated with Craniometaphyseal Dysplasia.

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular bones. Dental abnormalities are features of CMD that have been little discussed in the literature. We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. All patients have a history of delayed eruption of permanent teeth. Analysis of data obtained by cone-beam computed tomography showed significant bucco-lingual exp

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

BACKGROUND: Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports of affected siblings, but no locus or cytogenetic aberration had previously been described. METHODS AND RESULTS: This study shows that MOTA syndrome is caused by mutations in FREM1, a gene previously mu

[Clinical analysis of a child with heterotopic ventricular gray matter Renpenning syndrome caused by PQBP1 gene mutation and a literature review].

OBJECTIVE: To explore the genetic etiology of a child with Renpenning syndrome (RS), and review the literature on the clinical characteristi … unusual facies (microcephaly, long narrow face, microphthalmos, superior oblique palpebral fissure, hypertelorism of inner canthus, bulbous nasal columella) and mental retardation. Auxiliary examination showed than patient 1 had atrial septal defect, nodular heterotopia in the posterior horn of the left ventricle, angiodysplasia, and low IQ. The disease began i …

MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.

MID1 is a microtubule-associated protein that belongs to the TRIM family. MID1 functions as an ubiquitin E3 ligase, and recently was shown to catalyze the polyubiquitination of, alpha4, a protein regulator of protein phosphatase 2A (PP2A). It has been hypothesized that MID1 regulates PP2A, requiring the intermediary interaction with alpha4. Here we report that MID1 catalyzes the in vitro ubiquitination of the catalytic subunit of PP2A (PP2Ac) in the absence of alpha4. In the presence of alpha4, the level of PP2Ac ubiquitination is reduced. Using the MID1 RING-Bbox1-Bbox2 (RB1B2) construct cont

Автосоматический синдром снотворного синдрома спящей апноэ из-за нового варианта c.980_984dup в COL1A2: A Case Report.

Осложненный синдром апноэ (OSAS) — сложное расстройство, характеризующееся коллапсом верхних дыхательных путей во время сна. Хотя история семьи часто свидетельствует о наследственной предрасположенности к ОСУС, нет никаких доказательств того, что это на самом деле моногенное расстройство. До настоящего времени не было описано ни одного случая, когда пациент с наследственным OSA из-за патогенной мутации в цепи коллагенов типа I альфа-2 (COL1A2). Пациенткой была 72-летняя женщина, которая страдала бессонницей с 35 лет. С тех пор ОСУС подозревалось, но было подтверждено только в возрасте 67 лет п

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… CHD: coronary heart disease, COPD: chronic obstructive pulmonary disease, DM: diabetes, ICD: implantable cardioverter defibrillator, OSAS: obstructive sleep apnea syndrome The clinical neurological examination revealed short stature, hair loss, multiple nevi, hypertelorism, myopia, ptosis despite prior …

Rare Diseases of the Orbit.

This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space. That is the reason, why both the completeness and the level of detail in the description of particular diseases must be somewhat limited. Nevertheless, clinical manifestations, important aspects of diagnosis, treatment strategies, and, when specific data are a

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… Hypertelorism and increased size during Valsalva maneuver are additional indicators. CaveBilateral fronto-ethmoid mucoceles also induce Hypertelorism . 4.1.2.2 Dacryops 12 13 Fig. 3 Dacryops of the palpebral part of the right lacrimal gland in a 45-year-old female patient. … , pulsatile exophthalmos painless (pulsatile) tumor frontal sinus aplasia rarely bilateral, but if so, then associated with hypertelorism differentiation between meningoceles (meninges) and meningoencephaloceles (meninges and brain tissue) depending on contents further skull anomalies possible ( …

Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.

Inherited aortopathies, including Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome, are genetic disorders characterized by structural abnormalities of the aorta that predispose individuals to life-threatening complications like aneurysms and dissections. These conditions result from mutations in genes essential for maintaining aortic wall integrity, such as FBN1, TGFBR1, and COL3A1, affecting extracellular matrix components and the transforming growth factor-beta (TGF-β) pathway. Marfan syndrome has a prevalence of approximately 1 in 5000, while Loeys-Dietz syndrome and vascul

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… Patients with LDS typically present with a spectrum of systemic features, including hypertelorism (widely spaced eyes), bifid uvula or cleft palate, and arterial tortuosity. … Craniofacial abnormalities, such as hypertelorism and cleft palate, often necessitate surgical correction. Skeletal features, including scoliosis and pectus deformities, may require orthopedic interventions. …

Dental abnormalities in a mouse model for craniometaphyseal dysplasia.

Mice carrying a knock-in mutation (Phe377del) in the Ank gene replicate many skeletal characteristics of human craniometaphyseal dysplasia, including hyperostotic mandibles. Ank (KI/KI) mice have normal morphology of erupted molars and incisors but excessive cementum deposition with increased numbers of Ibsp- and Dmp1-positive cells on root surfaces. The cervical loops of adult Ank (KI/KI) lower incisors are at the level of the third molars, while they are close to the mandibular foramen in Ank (+/+) mice. Furthermore, Ank (KI/KI) incisors show decreased eruption rates, decreased proliferation

The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.

Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy. The complete understanding of the mechanisms by which thalidomide affects the embryo development has not yet been obtained. The phenotypic similarity makes TE a phenocopy of syndromes caused by mutations in ESCO2, SALL4 and TBX5 genes. Recently, SALL4 and TBX5 were demonstrated to be thalidomide targets. To understand if these genes act in the TE development, we sequenced them in 27 individuals with TE; we verified how thalidomide affect them in human pluripotent stem cells (h

Rare Diseases of the Nose, the Paranasal Sinuses, and the Anterior Skull Base.

Due to their low incidence and thus resulting limited diagnostic criteria as well as therapeutic options, rare diseases of the nose, the paranasal sinuses, and the anterior skull base are a significant challenge. The value as of which a disease has to be considered as rare amounts to a maximum of 5 patients per 10 000 people. Within these diseases, however, there are extreme differences. Some rare or orphan diseases like for example the inverted papilloma belong to regularly diagnosed and treated diseases of larger departments of oto-rhino-laryngology whereas other rare diseases and malformati

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… Hypertelorism may be found in addition. Probably, the inheritance is autosomal-dominant, however, cases with consanguine parents allow the assumption that pseudo-dominant autosomal-recessive inheritance cannot be fully excluded 31 32 . … Paramedian nasal clefts occur in an isolated way or in combination with cleft lip and/or other craniofacial anomalies (e. g. hypertelorism, broad nasal root, midline cleft). Nasal ridge and tip are usually well developed 34 . …

Abstracts of the 12th European Cytogenomics Conference 2019 : Salzburg, Austria. 6-9 July 2019

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Targeted therapy for advanced Basal-cell carcinoma: vismodegib and beyond.

Basal-cell carcinoma is a commonly occurring skin malignancy that has the potential to progress into locally invasive or resistant disease, as well as spread distantly. Due to advances in the molecular understanding of the disease over the last two decades, it has been discovered that the Hedgehog pathway plays an important role in the pathogenesis of this disease and can be exploited as a treatment target. Several agents that inhibit the Hedgehog pathway have reached clinical studies and one drug, vismodegib, has recently been US Food and Drug Administration (FDA) approved based on clinical a

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… Nevoid BCC syndrome, which is also known as Gorlin–Goltz syndrome or simply Gorlin syndrome, is an autosomal-dominant condition that results in a varying array of defects including, but not limited to events such as macrocephaly, frontal bossing, congenital cataracts, hypertelorism, palmar pits, spina …

Radiolucent lesions of the mandible: a pattern-based approach to diagnosis.

ObjectivesRadiolucent mandibular lesions seen on panoramic radiographs develop from both odontogenic and non-odontogenic structures. They represent a broad spectrum of lesions with a varying degree of malignant potential. The purpose of this review is to illustrate the characteristic imaging findings-as well as the clinical and histological features-of common and uncommon radiolucent lesions of the mandible.MethodsThis review article is based on the retrospective evaluation of 11,725 panoramic radiographs seen in our institution during the past 6 years. It provides a comprehensive, practical a

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… Patients typically have large calvaria, midface hypoplasia, high-arched eyebrows and hypertelorism. The treatment of choice in KCOTs is complete surgical removal of the lesion itself, including the commonly associated tooth. …

Skin manifestations associated with systemic diseases - Part II.

The skin, by reflecting internal processes, externalizes what happens inside the body in many diseases. Thus, the skin, as an organ, extrapolates its functions of protection, barrier and signals the existence of systemic diseases, expanding the importance of the dermatologist beyond the skin surface. Thus, the dermatologist investigates diagnostic hypotheses for conditions related to all systems and refers patients to the appropriate specialty. Combined with examination by a trained eye, the skin, due to its easy access, is still the ideal place for performing biopsies, which often clarify the

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… LEOPARD syndrome: an acronym for lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. 5 Ehlers-Danlos syndrome: characterized by several defects in the structure of collagen V, leading to changes on …

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

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… The sister clinically exhibits a striking similarity with features already described in partial trisomy 3p like hypertelorism, round face, short neck, down slanting palpebral fissures, psychomotor delay and behavioral problems. …

The Hedgehog-GLI pathway in embryonic development and cancer: implications for pulmonary oncology therapy.

Transcriptional regulation and epigenetic mechanisms closely control gene expression through diverse physiological and pathophysiological processes. These include the development of germ layers and post-natal epithelial cell-tissue differentiation, as well as, involved with the induction, promotion and/or progression of human malignancies. Diverse studies have shed light on the molecular similarities and differences involved in the stages of embryological epithelial development and dedifferentiation processes in malignant tumors of epithelial origin, of which many focus on lung carcinomas. In

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… Deregulation events of the Hh pathway have been linked to a broad set of pathological craniofacial manifestations including Cyclops, hypertelorism, and holoprosencephaly (HPE), among others [ 22 , 23 ]. …

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.

Among cardiomyopathies, the hypertrophic phenotype is the most common, and hypertrophic cardiomyopathy (HCM) phenocopies represent a heterogeneous group of conditions. They are defined by a left ventricular wall thickness ≥15 mm in the absence of other causes such as loading conditions, ischemia, or valvular disease. Although they mimic similar clinical and morphological features, their etiologies are distinct and include genetic, metabolic, and infiltrative mechanisms. Therefore, accurate classification and differential diagnosis are crucial for effective management and treatment. Sarcomeric

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… A particular form of Noonan syndrome is the one with multiple freckles (NSML), formerly known as LEOPARD syndrome (lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal male genitalia, retardation of growth and deafness), which is caused in 90% of cases by …