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Ceska a Slovenska Oftalmologie :... 2018The authors present the ocular finding in a patient sent to the Department of Paediatric Ophthalmology at the Children's University Hospital - Faculty of Medicine,...
The authors present the ocular finding in a patient sent to the Department of Paediatric Ophthalmology at the Children's University Hospital - Faculty of Medicine, Comenius University in Bratislava at the age of 3 months, with congenital glaucoma in her right eye and bilateral high myopia. The family anamnesis of the patient shows repeated occurrence of stunted growth, myopia, facial dysmorphia and cataract. The child's mother had high myopia, the mother's brother underwent cataract surgery, the child's grandmother and her sisters and the child's great grandmother had high myopia and glaucoma, and probably underwent cataract surgery at a young age. The child's mother and grandmother underwent a genetic examination, with a conclusion of Marshall syndrome. Within the framework of neonatal screening, poor cortical auditory evoked potential, a defect of the interventricular septum and bifid uvula were diagnosed in the child. With regard to the overall finding in the patient and the genetic family history, we suspected Marshall syndrome. A genetic examination determined Stickler syndrome type 1 with the presence of mutation in the COL2A gene (variant c.2710C >T (p.Arg904Cys,rs121912882)). Due to high intraocular pressure with the impossibility of compensation by medication, bilateral trabuculectomy was performed on the patient. At present the patient has intraocular pressure compensated with adjuvant medicamentous therapy. With regard to high myopia and pronounced degenerative changes on the periphery of the retina in the sense of lattice degeneration, preventive cryopexy of the retinal periphery is planned. A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of Marshall syndrome or Stickler syndrome type 2. Key words: Marshall syndrome, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, cataract.
Topics: Arthritis; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Infant; Male; Myopia; Pedigree; Retinal Detachment
PubMed: 30650974
DOI: 10.31348/2018/1/5-3-2018 -
Indian Pediatrics Feb 2005
Topics: Abnormalities, Multiple; Cataract; Child; Cleft Palate; Humans; Male; Osteochondrodysplasias; Skull; Syndrome; Uvula
PubMed: 15767717
DOI: No ID Found -
Journal of Medical Genetics Apr 1982A family originally reported as a variant of Marshall syndrome is re-examined. The clinical picture now encompasses both the Marshall and Stickler syndromes and it is...
A family originally reported as a variant of Marshall syndrome is re-examined. The clinical picture now encompasses both the Marshall and Stickler syndromes and it is suggested that the distinction between the two should be abandoned.
Topics: Adult; Child; Deafness; Female; Genetic Variation; Humans; Male; Myopia; Nose; Syndrome; Terminology as Topic; Zygoma
PubMed: 7077624
DOI: 10.1136/jmg.19.2.139 -
Journal of Developmental Biology Aug 2020The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and...
The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and articular joint issues resulting from mutations in . Zebrafish carry two copies of the gene, designated and . is located on zebrafish chromosome 24 and is located on zebrafish chromosome 2. Expression patterns are distinct for and and is most similar to that is responsible for human autosomal chondrodystrophies and the gene responsible for changes in the chondrodystrophic mouse model . We investigated the function of in craniofacial and axial skeletal development in zebrafish using a knockdown approach. Knockdown revealed abnormalities in Meckel's cartilage, the otoliths, and overall body length. Similar phenotypes were observed using a CRISPR/Cas9 gene-editing approach, although the CRISPR/Cas9 effect was more severe compared to the transient effect of the antisense morpholino oligonucleotide treatment. The results of this study provide evidence that the zebrafish gene for is required for normal development and has similar functions to the mammalian gene. Due to its transparency, external fertilization, the knockdown, and knockout zebrafish model systems can, therefore, contribute to filling the gap in knowledge about early events during vertebrate skeletal development that are not as tenable in mammalian model systems and help us understand -related early developmental events.
PubMed: 32872105
DOI: 10.3390/jdb8030016 -
Journal of Medical Genetics Jun 1980Several investigators have suggested that the Marshall syndrome and the Weaver syndrome are one entity because of some phenotypic overlap. This paper reviews the...
Several investigators have suggested that the Marshall syndrome and the Weaver syndrome are one entity because of some phenotypic overlap. This paper reviews the findings in nine additional patients with the Marshall syndrome and concludes that the syndromes are two distinct entities. In the Marshall syndrome there is a characteristic facies, failure to thrive in terms of height, weight, and psychomotor development, and early death. In the Weaver syndome the infants thrive too well: weight and heights are much above normal. They also have increased bifrontal diameters, hypertonia, prominent finger pads, and thin, deep-set nails, and the face is quite different from the Marshall facies.
Topics: Bone Diseases, Developmental; Child, Preschool; Diagnosis, Differential; Female; Growth Disorders; Humans; Infant; Male; Phenotype; Syndrome
PubMed: 7401127
DOI: 10.1136/jmg.17.3.174 -
American Journal of Human Genetics Nov 1998
Topics: Alternative Splicing; Collagen; Craniofacial Abnormalities; Female; Humans; Male; Mutation; Pedigree; Syndrome
PubMed: 9792885
DOI: 10.1086/302110 -
Rheumatology Advances in Practice 2023Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the...
OBJECTIVE
Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological and molecular features (when available) and outcomes of Moroccan patients with AIDs.
METHODS
Patient data were collected retrospectively and analysed over a 13-year period.
RESULTS
Among 30 patients, 60% had FMF, 16% mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean age at first consultation was 6.9 years, and the mean diagnostic delay was 3 years. Consanguinity was reported in 16 cases. IgA vasculitis was associated with 33% of FMF patients, in whom the main clinical features were fever (88.8%), abdominal pain (100%), arthralgias (88.8%) and arthritis (50%), and the most frequent mutation was M694V (66%). All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and four of five MKD patients received targeted therapy. Chronic recurrent osteomyelitis patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. A case of familial pustular psoriasis was diagnosed based on histological analysis and a patient with Muckle-Wells syndrome by clinical features. The outcome was favourable in 76%, partial in 13%, and three deaths were reported.
CONCLUSION
FMF and MKD are the most reported diseases. AIDs are probably underestimated because they are unknown to clinicians. The aim of this work is to raise awareness among paediatricians about AIDs and create a network for best practice.
PubMed: 36685993
DOI: 10.1093/rap/rkad001 -
Journal of Medical Case Reports Aug 2017Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients.... (Review)
Review
BACKGROUND
Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome.
CASE PRESENTATION
A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, -2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in COL11A1. At 8 years old, his height was 116.2 cm (-1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the COL2A1 gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp).
CONCLUSIONS
In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.
Topics: Arthritis; Cataract; Child; Child, Preschool; Cleft Palate; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Craniofacial Abnormalities; Diagnosis, Differential; Growth Disorders; Hearing Loss, Sensorineural; Humans; Male; Micrognathism; Mutation; Osteochondrodysplasias; Palate, Soft; Phenotype; Retinal Detachment
PubMed: 28841907
DOI: 10.1186/s13256-017-1396-y -
Journal of Developmental Biology Sep 2022The expression of the gene is essential for normal skeletal development, affecting both cartilage and bone. Loss of function mutations have been shown to cause...
The expression of the gene is essential for normal skeletal development, affecting both cartilage and bone. Loss of function mutations have been shown to cause abnormalities in the growth plate of long bones, as well as in craniofacial development. However, the specific effects on Meckel's cartilage have not been well studied. To further understand the effect of gene function, we analyzed the developing jaw in zebrafish using gene knockdown by the injection of an antisense morpholino oligonucleotide using transgenic Tg(sp7:EGFP) and Tg(Fli1a:EGFP) EGFP reporter fish, as well as wildtype AB zebrafish. Our results demonstrate that zebrafish knockdown impairs the cellular organization of Meckel's cartilage in the developing jaw and alters the bone formation that occurs adjacent to the Meckel's cartilage. These results suggest roles for Col11a1a protein in cartilage intermediates of bone development, the subsequent mineralization of the bony collar of long bones, and that which occurs adjacent to Meckel's cartilage in the developing jaw.
PubMed: 36278545
DOI: 10.3390/jdb10040040 -
American Journal of Human Genetics Oct 1999Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since...
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gene, and one mutation causing Stickler syndrome and one causing Marshall syndrome have been detected in the COL11A1 gene. We characterize here the genomic structure of the COL11A1 gene. Screening of patients with Stickler, Stickler-like, or Marshall syndrome pointed to 23 novel mutations. Genotypic-phenotypic comparison revealed an association between the Marshall syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region of the COL11A1 gene. Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Collagen; DNA Mutational Analysis; Exons; Female; Genotype; Hearing Loss, Sensorineural; Humans; Introns; Male; Molecular Sequence Data; Mutation; Myopia; Osteochondrodysplasias; Phenotype; RNA Splicing; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion; Syndrome
PubMed: 10486316
DOI: 10.1086/302585