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https://read.qxmd.com/read/30740902/exome-sequencing-reveals-a-novel-col2a1-mutation-implicated-in-multiple-epiphyseal-dysplasia
#1
Vinod Dasa, James R B Eastwood, Michal Podgorski, Heewon Park, Christopher Blackstock, Tetyana Antoshchenko, Piotr Rogala, Tadeusz Bieganski, S Michal Jazwinski, Malwina Czarny-Ratajczak
Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Initially, we excluded all genes known to be associated with autosomal dominant MED by using microsatellite and SNP markers...
February 10, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30543055/mesencephalic-astrocyte-derived-neurotropic-factor-is-an-important-factor-in-chondrocyte-er-homeostasis
#2
P A Bell, E P Dennis, C L Hartley, R M Jackson, A Porter, R P Boot-Handford, K A Pirog, M D Briggs
Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER) resident protein that can be secreted due to an imperfect KDEL motif. MANF plays a cytoprotective role in several soft tissues and is upregulated in conditions resulting from intracellular retention of mutant protein, including two skeletal diseases, metaphyseal chondrodysplasia, Schmid type (MCDS) and multiple epiphyseal dysplasia (MED). The role of MANF in skeletal tissue homeostasis is currently unknown. Interestingly, cartilage-specific deletion of Manf in a mouse model of MED resulted in increased disease severity, suggesting its upregulation may be chondroprotective...
December 12, 2018: Cell Stress & Chaperones
https://read.qxmd.com/read/30541462/pathogenic-gene-screening-in-91-chinese-patients-with-short-stature-of-unknown-etiology-with-a-targeted-next-generation-sequencing-panel
#3
Lulu Yang, Chenhui Zhang, Wei Wang, Junqi Wang, Yuan Xiao, Wenli Lu, Xiaoyu Ma, Lifen Chen, Jihong Ni, Defen Wang, Jinxiu Shi, Zhiya Dong
BACKGROUND: Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. Recombinant human growth hormone may be a treatment option, but it has limited efficacy. The currently known laboratory assays do not meet the precision requirements for clinical diagnosis. Here, we have constructed a targeted next-generation sequencing (NGS) panel of selected genes that are suspected to be associated with dwarfism for genetic screening. METHODS: Genetic screening of 91 children with short stature of unknown etiology was performed with the help of the NGS panel...
December 12, 2018: BMC Medical Genetics
https://read.qxmd.com/read/30514997/an-infant-with-neonatal-diabetes-and-double-outlet-right-ventricle-wolcott-rallison-syndrome
#4
Ramush Bejiqi, Ragip Retkoceri, Naim Zeka, Rinor Bejiqi, Samir Bejic
Introduction: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate...
October 2018: Medical Archives
https://read.qxmd.com/read/30423444/recessive-multiple-epiphyseal-dysplasia-clinical-characteristics-caused-by-rare-compound-heterozygous-slc26a2-genotypes
#5
Mehran Kausar, Riikka E Mäkitie, Sanna Toiviainen-Salo, Jaakko Ignatius, Mariam Anees, Outi Mäkitie
Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysplasias. We report on two new patients with rMED and very rare compound heterozygous mutation combinations in non-consanguineous families. Patient I presented in childhood with waddling gait and joint stiffness. Radiographs showed epiphyseal changes, bilateral coxa plana-deformity and knee valgus deformity, for which he underwent surgeries...
November 10, 2018: European Journal of Medical Genetics
https://read.qxmd.com/read/30368667/lowry-wood-syndrome-further-evidence-of-association-with-rnu4atac-and-correlation-between-genotype-and-phenotype
#6
Ivan Shelihan, Sophie Ehresmann, Cinzia Magnani, Francesca Forzano, Chiara Baldo, Nicola Brunetti-Pierri, Philippe M Campeau
Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement. Pathogenic variants in RNU4ATAC, an RNA of the minor spliceosome important for the excision of U12-dependent introns, have been recently associated with LWS. This gene had previously also been associated with microcephalic osteodysplastic primordial dwarfism (MOPD) and Roifman syndrome (RS), two distinct conditions which share with LWS some skeletal and neurological anomalies...
December 2018: Human Genetics
https://read.qxmd.com/read/30272611/periacetabular-osteotomy-improves-pain-and-function-in-patients-with-lateral-center-edge-angle-between-18%C3%A2-and-25%C3%A2-but-are-these-hips-really-borderline-dysplastic
#7
Michael P McClincy, James D Wylie, Young-Jo Kim, Michael B Millis, Eduardo N Novais
BACKGROUND: The treatment of mild or borderline acetabular dysplasia is controversial with surgical options including both arthroscopic labral repair with capsular closure or plication and periacetabular osteotomy (PAO). The degree to which improvements in pain and function might be achieved using these approaches may be a function of acetabular morphology and the severity of the dysplasia, but detailed radiographic assessments of acetabular morphology in patients with a lateral center-edge angle (LCEA) of 18° to 25° who have undergone PAO have not, to our knowledge, been performed...
September 27, 2018: Clinical Orthopaedics and related Research
https://read.qxmd.com/read/30080953/alu-alu-mediated-intragenic-duplications-in-ift81-and-matn3-are-associated-with-skeletal-dysplasias
#8
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Claudia M B Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand
Skeletal dysplasias are a diverse group of rare Mendelian disorders with clinical and genetic heterogeneity. Here, we used targeted copy number variant (CNV) screening and identified intragenic exonic duplications, formed through Alu-Alu fusion events, in two individuals with skeletal dysplasia and negative exome sequencing results. First, we detected a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD) (MIM# 208500). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples...
October 2018: Human Mutation
https://read.qxmd.com/read/29995666/articulated-hip-distraction-for-impingement-of-the-deformed-femoral-head-in-a-patient-with-multiple-epiphyseal-dysplasia-a-case-report
#9
Woo Young Jang, Tae-Joon Cho
CASE: A 14-year-old boy with multiple epiphyseal dysplasia (MED) presented with right hip pain and stiffness. Radiographs revealed a deep notch at the superolateral part of the femoral head, which abutted the lateral corner of the acetabulum. Articulated hip distraction (AHD) was used to reduce the femoral head and obliterate the notch. At the 4-year follow-up, the radiographs showed a well-preserved joint space, and the patient had functional improvement. CONCLUSION: AHD may be an effective way to address and obliterate a superolateral femoral head notch and promote regeneration of the femoral head in a patient with MED...
July 11, 2018: JBJS Case Connector
https://read.qxmd.com/read/29899997/two-novel-mutations-of-comp-in-japanese-boys-with-pseudoachondroplasia
#10
Yosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, Kenji Watanabe, Gen Nishimura, Tomonobu Hasegawa
Mutations in the cartilage oligomeric matrix protein ( COMP ) gene cause both pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Most mutations in COMP are located in the region encoding type 3 thrombospondin like domain (TSP3D). We report two Japanese boys with PSACH who had different novel in-frame deletions in TSP3D. The result recapitulates previous reports in that the in-frame deletions in TSP3D preferentially caused PSACH rather than MED.
2018: Human Genome Variation
https://read.qxmd.com/read/29724173/dual-novel-mutations-in-slc26a2-in-two-siblings-with-multiple-epiphyseal-dysplasia-4-from-a-chinese-family-a-case-report
#11
Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu, Peiqiang Su
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 gene cause a phenotype of multiple epiphyseal dysplasia-4 (MED-4). In the present study, we identified novel compound heterozygous mutations in the SLC26A2 gene in a Chinese family with two affected sibs with MED-4. CASE PRESENTATION: Radiographs revealed hip dysplasia, brachydactyly and scoliosis in patient 1...
May 3, 2018: BMC Medical Genetics
https://read.qxmd.com/read/29572747/severe-nasomaxillary-hypoplasia-binder-phenotype-on-prenatal-us-mri-an-important-marker-for-the-prenatal-diagnosis-of-chondrodysplasia-punctata
#12
Anna R Blask, Eva I Rubio, Kimberly A Chapman, Anne K Lawrence, Dorothy I Bulas
BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging. OBJECTIVE: To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder phenotype, and to highlight prenatal ultrasound and MRI findings, as well as postnatal MRI and radiographic findings. MATERIALS AND METHODS: We retrospectively reviewed ultrasound, MRI and radiographic imaging findings in postnatally confirmed cases of chondrodysplasia punctata from 2001 to 2017...
July 2018: Pediatric Radiology
https://read.qxmd.com/read/29530484/cartilage-oligomeric-matrix-protein-compopathies-and-beyond
#13
REVIEW
Karen L Posey, Francoise Coustry, Jacqueline T Hecht
Cartilage oligomeric matrix protein (COMP) is a large pentameric glycoprotein that interacts with multiple extracellular matrix proteins in cartilage and other tissues. While, COMP is known to play a role in collagen secretion and fibrillogenesis, chondrocyte proliferation and mechanical strength of tendons, the complete range of COMP functions remains to be defined. COMPopathies describe pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), two skeletal dysplasias caused by autosomal dominant COMP mutations...
October 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://read.qxmd.com/read/29415765/double-non-contiguous-fractures-in-a-patient-with-spondylo-epiphyseal-dysplasia-with-spinal-ankylosis-treated-with-open-and-percutaneous-spinal-fixation-technique-a-case-report
#14
Takahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, Masaki Takagi, Tatsuro Kondoh, Gen Nishimura, Aritoshi Iida, Shiro Ikegawa, Nobuhiko Haga, Go Kato
BACKGROUND: Patients with ankylosing spines are susceptible to developing spinal fractures even with minor trauma and can develop early or late neurological injuries. These fractures require early and aggressive surgical management to enable spinal stability and/or neural decompression. Being highly unstable by nature, they require relatively long segment instrumentation and fusion, which can increase paravertebral soft tissue damage and perioperative bleeding. The purpose of this report is to describe a rare case of traumatic double fractures at the cervico-thoracic and thoraco-lumbar transition zones in ankylosing spine with spondylo-epiphyseal dysplasia (SED) of unknown cause, which were successfully treated with a combined open and percutaneous spinal fusion procedure...
February 7, 2018: BMC Research Notes
https://read.qxmd.com/read/29274861/hybrid-total-hip-arthroplasty-for-multiple-epiphyseal-dysplasia
#15
J Vanlommel, L Vanlommel, B Molenaers, J-P Simon
BACKGROUND: Multiple Ephiphyseal Dysplasia (MED) is a rare autosomal dominant skeletal dysplasia that causes deformation of the epiphysis of the involved joints. The hips are invariably affected and symptoms due to incapacitating early onset degenerative hip disease often begin between the second and fourth decade of life. Literature regarding the clinical and radiographical outcomes after total hip arthroplasty in this young population are very scarce. Hypothesis in patients with multiple epiphyseal dysplasia and early onset degenerative hip disease, hybrid total hip arthroplasty is a safe and reliable procedure...
May 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://read.qxmd.com/read/29162415/novel-mutations-in-the-cartilage-oligomeric-matrix-protein-gene-identified-in-two-taiwanese-patients-with-pseudoachondroplasia-and-multiple-epiphyseal-dysplasia
#16
Wei-De Lin, I-Ching Chou, Chung-Hsing Wang, Fuu-Jen Tsai
No abstract text is available yet for this article.
August 2018: Pediatrics and Neonatology
https://read.qxmd.com/read/29145110/traumatic-separation-of-osseous-segments-in-a-double-layered-patella
#17
Andreas Jørgensen, Erik Brandt, Anton Ulstrup
INTRODUCTION: Double-layered patella is a rare intra-articular disorder associated with multiple epiphyseal dysplasia. PRESENTATION OF CASE: We present a case of a 40-year old man with acute pain in his left knee after a tackle during soccer play. DISCUSSION: Clinical examination and radiographs confirmed the diagnosis of a bilateral double-layered patella with traumatic separation of the osseous segments on the afflicted left side. Surgical management comprised of open arthrotomy and debridement of the bony interface...
2017: International Journal of Surgery Case Reports
https://read.qxmd.com/read/29024831/multiple-slc26a2-mutations-occurring-in-a-three-generational-family
#18
Ana Coral Barreda-Bonis, Jimena Barraza-García, Manuel Parrón, Ignacio Pastor, Karen E Heath, Isabel González-Casado
Multiple epiphyseal dysplasias (MED) are a group of heterogeneous skeletal dysplasias, which share a common phenotype: short stature, skeletal deformities, joint pain and early onset osteoarthritis. Mutations in COMP account for approximately half of autosomal dominant MED cases whilst SLC26A2 mutations account for ∼25% of the recessive cases in the Caucasian population. We present here an interesting family, which was thought to initially have an autosomal dominant skeletal dysplasia. Using a targeted sequencing skeletal dysplasia panel, the proband was found to be a compound heterozygote for two mutations in SLC26A2, one novel mutation, p...
January 2018: European Journal of Medical Genetics
https://read.qxmd.com/read/28860685/modyfied-wedge-osteotomy-for-osteoarthritis-of-elbow-secondary-to-osteochondritis-dissecans-in-adolecent-with-multiple-epiphyseal-dysplasia-a-case-report
#19
Takashi Yoshida, Wook-Cheol Kim, Yoshinobu Oka, Masashi Nakase, Atsushi Nishida, Hiroaki Wada, Yuji Arai, Toshikazu Kubo
Multiple epiphyseal dysplasia (MED) may be complicated by osteochondritis dissecans (OCD), most commonly reported in the knee, but involvement of the elbow is very rare. Optimal treatment for MED-associated elbow OCD and treatment outcome have not been established. This report describes the case of an adolescent male patient with elbow OCD treated by arthroscopic drilling at a previous clinic. Progression of osteoarthritis and radial head subluxation were observed. Resection of the osteophytes and modified wedge osteotomy of the lateral condyle were then performed, and a favorable result was obtained by decompression and sufficient congruency of the radiohumeral joint...
December 2017: Journal of Orthopaedics
https://read.qxmd.com/read/28828057/dysplasia-epiphysealis-hemimelica-a-histological-comparative-study-with-osteochondromas
#20
J Stevens, T J M Welting, A M Witlox, L W van Rhijn, H M Staal
PURPOSE: Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences exist between DEH and osteochondromas. The aim of this study was to test whether DEH and osteochondromas are histologically identical diseases. METHODS: Tissue samples of two age- and gender-matched cases with DEH and hereditary multiple exostoses were histologically compared...
June 1, 2017: Journal of Children's Orthopaedics
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