A5049949090- Genetic and Kidney Cyst Diseases
- Epigenetics and DNA Methylation
- Ocular Disorders and Treatments
- Renal and related cancers
- Protist diversity and phylogeny
- Retinal Development and Disorders
- Cleft Lip and Palate Research
- Biomedical Research and Pathophysiology
- melanin and skin pigmentation
- Retinal Diseases and Treatments
- Head and Neck Anomalies
- Neonatal Respiratory Health Research
- Reconstructive Facial Surgery Techniques
- Craniofacial Disorders and Treatments
- RNA regulation and disease
- Congenital Ear and Nasal Anomalies
- Genomics and Chromatin Dynamics
- Corneal Surgery and Treatments
- Oral and Maxillofacial Pathology
- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Mercury impact and mitigation studies
- Bone and Dental Protein Studies
- dental development and anomalies
- Genomic variations and chromosomal abnormalities
Poznan University of Medical Sciences
2010-2024
Max Planck Institute for Molecular Genetics
2008-2010
Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), a rare, autosomal recessive ciliary chondrodysplasia characterized by variety of clinical features including distinctive craniofacial appearance well skeletal, ectodermal, liver and renal anomalies. Progressive disease can be life-threatening in this condition. CED genetically heterogeneous disorder. Currently, variants any six genes (IFT122, WDR35, IFT140, IFT43, IFT52 WDR19) have been associated with syndrome....
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. belongs group of ciliary chondrodysplasias genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, IFT52 associated with CED. All known genes encode proteins that are part the intraflagellar transport complex,...
Defects in the development of first and second pharyngeal arches their derivatives result abnormal formation craniofacial complex, consequently giving rise to facial dysostoses (FDs). FDs represent a group rare highly heterogeneous disease entities that encompass mandibulofacial (MFDs) with normal extremities acrofacial (AFDs) limb anomalies addition defects.We examined 11 families variable clinical symptoms FDs, most which only one member was affected. We applied two custom gene...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic syndromic with complex clinical phenotypes. Three unrelated Polish probands affected retinitis coexisting cerebellar ataxia were recruited for this study. Clinical heterogeneity delayed appearance typical disease symptoms significantly prolonged patients’ diagnostic process....
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as combination of cone‐rod dystrophy including progressive loss visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It caused by mutations CNNM4 , which encodes the ancient conserved domain protein 4. Here we report three brothers muscle overgrowth legs. Myopathic changes were found needle electromyography. Mutational...
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap known as skeletal and include Jeune asphyxiating thoracic dysplasia (JATD), Mainzer-Saldino syndrome (MZSDS), cranioectodermal (CED), short-rib polydactyly (SRP). heterogeneous disorders with >187 associated genes, which some genes described to cause more than one ciliopathy phenotype. Both molecular make accurate...
Abstract Cranioectodermal dysplasia (CED) is a rare autosomal recessive disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. CED chondrodysplasia, which part of spectrum clinically genetically heterogeneous diseases that result from disruptions in cilia. Pathogenic variants genes encoding components the ciliary transport machinery are known to cause CED. Intra‐ interfamilial clinical variability has been reported few studies findings this study align with...
Background Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith in 1975. CED complex disorder characterized craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable the phenotype may present intrafamilial interfamilial differences. belongs to group of ciliary chondrodysplasias genetically heterogeneous disease. Mutations six genes: IFT122, WDR35, IFT43, WDR19, IFT52 , IFT140 have been...
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies and frequent cause blindness in children. To date, 25 genes have been implicated pathogenesis this rare disorder. Performing an accurate molecular diagnosis crucial as gene therapy becoming available. This study aimed to report basis amaurosis, especially novel variants 27 Polish families with a clinical LCA fully confirmed by analyses. Whole exome sequencing or targeted next-generation (NGS)...
Abstract The ciliary chondrodysplasias represent a group of clinically and genetically heterogeneous disorders that affect skeleton development. Cilia are organelles project from the surface many cell types play an important role during prenatal postnatal human Cranioectodermal dysplasia (Sensenbrenner syndrome, CED) is ciliopathy primarily characterized by craniofacial, skeletal, ectodermal abnormalities. To date six genes have been associated with CED: IFT122 , WDR35 WDR19 IFT140 IFT43...
Abstract Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations, corresponding, respectively, to absent eyeball or reduced size of the eye. Both anophthalmia may occur in isolation as part a syndrome. Genetic heterogeneity has been demonstrated, many genes have reported be associated with A/M. The advances high‐throughput sequencing proven highly effective defining molecular basis Nevertheless, there are still patients unsolved genetic background disease,...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders with progressive loss photoreceptor pigment epithelial function. Nineteen unrelated Polish probands diagnosed nonsyndromic RP were recruited to this study. We used whole-exome sequencing (WES) identify potential pathogenic gene variants in molecularly undiagnosed patients, as molecular re-diagnosis after having performed targeted NGS the past. Targeted allowed for identification background only 5 out...
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney liver insufficiency are present in this disorder. Cranioectodermal an autosomal recessive heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, WDR19) to be associated with syndrome. Until 2021 more than 70 patients have been reported CED, however, orthotopic transplantation...
Abstract Cranioectodermal dysplasia (CED) is rare heterogeneous condition. It belongs to a group of disorders defined as ciliopathies and associated with defective cilia function structure. To date six genes have been CED. Here we describe 4‐year‐old male CED patient whose features include dolichocephaly, multi‐suture craniosynostosis, epicanthus, frontal bossing, narrow thorax, limb shortening, brachydactyly. The presented early‐onset chronic kidney disease was transplanted at the age 2...
Abstract Objective Craniosynostosis (CS) is the premature fusion of cranial sutures, occurring either in isolated or syndromic form. Syndromic CS, which was described over 180 genetic syndromes, accounts for 15–30% all CS cases and usually originates from mutations within FGFR1 , FGFR2 FGFR3 TWIST1 genes. However, causative alterations other genes, rarely copy number variations (CNVs) were also reported. In this article, we describe a patient with Noonan‐like facial dysmorphism accompanied...
Aniridia is usually an autosomal dominant, rare disorder characterized by a variable degree of hypoplasia or the absence iris tissue, with additional ocular abnormalities. Pathogenic variants in PAX6 gene are associated aniridia most patients. However, up to 30% individuals, disease results from 11p13 chromosomal rearrangements. Here we present patient clinical diagnosis partial born consanguineous Polish parents. The parents were asymptomatic and ophthalmologically normal. We performed...
ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Wawrocka A, Walczak-Sztulpa J, Skorczyk-Werner et al. Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome. Klinika Oczna / Acta Ophthalmologica Polonica. 2018;120(4):189-194. doi:10.5114/ko.2018.82893. APA Wawrocka, A., Walczak-Sztulpa, J., Skorczyk-Werner, Kuszel, Ł., Socha, M., & Jamsheer, A. (2018). Polonica, 120(4), 189-194. https://doi.org/10.5114/ko.2018.82893...
Background: Cranioectodermal dysplasia (CED) is a skeletal autosomal recessive ciliopathy. The characteristic clinical features of CED are facial dysmorphisms, short limbs, narrow thorax, brachydactyly, ectodermal abnormalities, and renal insufficiency. Thus far, variants in six genes known to be associated with this disorder: WDR35 , IFT122 IFT140 IFT144 IFT52 IFT43 . Objective: goal study was perform cilium phenotyping human urine-derived epithelial cells (hURECs) from patient diagnosed...