Database : MEDLINE
Search on : Syndactyly [Words]
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[PMID]: 29524275
[Au] Autor:Sukenik Halevy R; Chien HC; Heinz B; Bamshad MJ; Nickerson DA; Kircher M; Ahituv N
[Ad] Address:Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, USA.
[Ti] Title:Mutations in the fourth ß-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
[So] Source:Hum Mutat;, 2018 Mar 10.
[Is] ISSN:1098-1004
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Isolated hand syndactyly is a common limb malformation with limited known genetic etiology. We used exome sequencing to discover two novel variants, chr11 g.46896373C>G; p.D1403H and chr11 g.46893078G>T; p.Q1564K, in LRP4 in a child with isolated bilateral syndactyly of the third and fourth fingers. Each variant was inherited from a different parent and neither parent was affected. Variants in LRP4 have been previously associated with syndactyly in Cenani-Lenz syndactyly syndrome and Sclerosteosis 2, but have not been reported in individuals with isolated syndactyly. LRP4 inhibits LRP6/LRP5-mediated activation of canonical Wnt signaling and mediates sclerostin-dependent inhibition of bone formation. p.D1403H and p.Q1564K are located within the fourth ß-propeller of the extracellular protein domain that has yet to be associated with human disease. Functional analyses of p.D1403H and p.Q1564K show that they significantly decrease LRP4's inhibition of Wnt signaling. These results suggest that variants in the fourth ß-propeller of the extracellular protein domain may cause a phenotype distinct from previously characterized LRP4 variants. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher
[do] DOI:10.1002/humu.23417

  2 / 4819 MEDLINE  
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[PMID]: 29514872
[Au] Autor:Shabbir RMK; Nalbant G; Ahmad N; Malik S; Tolun A
[Ad] Address:Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
[Ti] Title:Homozygous mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.
[So] Source:J Med Genet;, 2018 Mar 07.
[Is] ISSN:1468-6244
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease. Chst11-deficient mouse has severe chondrodysplasia, congenital arthritis and neonatal lethality. We searched for the causative variant for the unusual combination of limb malformations with variable expressivity accompanied by skeletal defects in a consanguineous Pakistani kindred. METHODS: We performed detailed clinical investigations in family members. Homozygosity mapping using SNP genotype data was performed to map the disease locus and exome sequencing to identify the underlying molecular defect. RESULTS: The limb malformations include brachydactyly, overriding digits and clino-symphalangism in hands and feet and syndactyly and hexadactyly in feet. Skeletal defects include scoliosis, dislocated patellae and fibulae and pectus excavatum. The disease locus is mapped to a 1.6 Mb region at 12q23, harbouring a homozygous in-frame deletion of 15 nucleotides in Novel variant c.467_481del (p.L156_N160del) is deduced to lead to the deletion of five evolutionarily highly conserved amino acids and predicted as damaging to protein by in silico analysis. Our findings confirm the crucial role of CHST11 in skeletal morphogenesis and show that defects have variable manifestations that include a variety of limb malformations and skeletal defects.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher

  3 / 4819 MEDLINE  
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[PMID]: 29219953
[Au] Autor:Vincent A; AlAli A; MacDonald H; VandenHoven C; Héon E
[Ad] Address:Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
[Ti] Title:Specific retinal phenotype in early IQCB1-related disease.
[So] Source:Eye (Lond);32(3):646-651, 2018 Mar.
[Is] ISSN:1476-5454
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PurposeTo describe the ocular and systemic phenotype in IQCB1-related disease.MethodsFour cases (3 males, 1 female) with molecularly confirmed IQCB1-related disease underwent ophthalmological examination including best-corrected visual acuity (BCVA) measurement, fundus evaluation, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Systemic evaluation including abdominal ultrasound was performed in all cases.ResultsBCVA ranged from perception of light (Case-2; 1 year) to 20/125 (Case-1; 9 years). Fundus evaluation showed whitish or silvery reflex outside the vascular arcades in all cases; the reflex was circumferential, irregular and covered at-least 6 clock hours at younger ages (3 cases; 1-4 years). The reflex was less conspicuous with increasing age (Case-1 (9 years) and Case-4 (20 years)). The peripheral retinal SD-OCT scans showed evidence of extensive deposition at the level of retinal pigment epithelium with complete absence of overlying photoreceptor outer segments and myoid zone. The ERG was non-detectable in all cases. All cases harbored biallelic nonsense (p.R364*, p. R455*) or frameshifting (p.M370Yfs*49, p.C253Afs*9) mutations in IQCB1. Case-1 additionally had developmental delay, hemi-hyperplasia, toe syndactyly, and kidney cysts.ConclusionIQCB1-related syndromic or non-syndromic Leber congenital amaurosis (LCA) carries unique retinal characteristics which helps differentiate IQCB1-retinopathy from other genetic forms of LCA in childhood.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1038/eye.2017.283

  4 / 4819 MEDLINE  
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[PMID]: 29509981
[Au] Autor:Liakath-Ali K; Vancollie VE; Sequeira I; Lelliott CJ; Watt FM
[Ad] Address:Centre for Stem Cells, Regenerative Medicine, King's College London, 28th floor, Guy's Tower Wing, London, SE1 9RT, UK.
[Ti] Title:Myosin 10 is involved in murine pigmentation.
[So] Source:Exp Dermatol;, 2018 Mar 06.
[Is] ISSN:1600-0625
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Myosins are molecular motors that are well known for their role in cell movement and contractile functions. Although extensively studied in muscle physiology, little is known about the function of myosins in mammalian skin. As part of the Sanger Institute Mouse Genetic Project, we have identified a role for Myo10 in pigmentation, with a phenotype unlike those of Myo5a or Myo7a. Adult mice homozygous for a disrupted Myo10 allele on a C57BL/6N background displayed a high degree of penetrance for white patches on their abdomen and dorsal surface. Fore- and hind paw syndactyly was also observed in these mice. Tail epidermal wholemounts showed a complete lack of melanocytes in the hair follicles and interfollicular epidermis. Myo10 previously been implicated in human pigmentation. Our current study reveals involvement of Myo10 in murine pigmentation. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher
[do] DOI:10.1111/exd.13528

  5 / 4819 MEDLINE  
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[PMID]: 29490900
[Au] Autor:Morandi G; Piona C; Degani D; El Hachem MC; Resta N; Richelli C; Lauriola S
[Ad] Address:Unit of Pediatrics, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
[Ti] Title:Limb hypertrophy: a skin vascular malformation and bilateral hydroureteronephrosis in a neonate.
[So] Source:Arch Dis Child Educ Pract Ed;, 2018 Feb 28.
[Is] ISSN:1743-0593
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th-90th centile). edpract;archdischild-2017-314021v1/F1F1F1Figure 1Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation. QUESTIONS 1: What investigations would you think of in a baby with limb hypertrophy and a vascular malformation?Limb X-rays followed by abdominal and limb CT scanLimb muscles and soft tissues MRIKidney and limb ultrasound followed by abdominal and limb CT scanThigh, leg and abdominal MRI and in second instance brain MRIThigh, leg and abdominal CT scan and brain MRI. QUESTIONS 2: Which overgrowth syndrome includes limb hypertrophy, skin vascular malformations and bilateral hydroureteronephrosis?Neurofibromatosis type ISotos syndromeBeckwith-Wiedemann syndromeMadelung's diseasePIK3CA-related overgrowth spectrum (PROS) disorder.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher

  6 / 4819 MEDLINE  
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[PMID]: 29476210
[Au] Autor:Tan AP; Chong WK
[Ad] Address:National University Health System, 1E Kent Ridge Rd, Singapore, 119228, Singapore. ai_peng_tan@nuhs.edu.sg.
[Ti] Title:A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?
[So] Source:Childs Nerv Syst;, 2018 Feb 23.
[Is] ISSN:1433-0350
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. In 2013, the causative mutation underlying SWS (p.R183Q somatic activating mutation in the guanine nucleotide-binding protein alpha-q (GNAQ) gene) was identified. This mutation increases downstream signaling along the RAS/MAPK pathway, resulting in increased cell proliferation. The interaction between FGFR and the RAS/MAPK signaling pathway was proposed in recent years. Elevated synthesis of fibronectin in the calvaria of patients with Apert syndrome and increased fibronectin gene expression in port wine-derived fibroblasts of patients with Sturge-Weber disease have also been reported. CASE PRESENTATION: We report a unique case of Apert and Sturge-Weber syndromes occurring in the same patient. The child was noted to demonstrate features suggestive of Apert syndrome at birth, including brachycephaly, midface hypoplasia, and syndactyly. In addition, a left-sided facial port wine stain in the forehead was noted. Magnetic resonance imaging (MRI) of the brain was performed and confirmed the diagnosis of Sturge-Weber syndrome by demonstrating the presence of left sided leptomeningeal vascular capillary malformation and left-sided cerebral hemiatrophy. CONCLUSION: To the best of our knowledge, there has been no prior described case of Apert and Sturge-Weber syndromes occurring in the same patient. This case report identifies an area of potential research on fibronectin and derangement of the RAS/MAPK signaling pathway in relation to Apert syndrome and Sturge-Weber syndrome. In view of the rare concurrence of Apert and Sturge-Weber syndromes, the underlying pathogenesis is thought to be multifactorial, one of which may be related to either increased fibronectin gene expression or derangement of the RAS/MAPK signaling pathway.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180224
[Lr] Last revision date:180224
[St] Status:Publisher
[do] DOI:10.1007/s00381-018-3758-1

  7 / 4819 MEDLINE  
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[PMID]: 29472431
[Au] Autor:McConville DO; Archbold GP; Lewis A; Morrison PJ
[Ad] Address:Department of Podiatry, Belfast Health and Social Care Trust, Belfast, U.K.
[Ti] Title:Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes.
[So] Source:Diabetes Care;, 2018 Feb 22.
[Is] ISSN:1935-5548
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1802
[Cu] Class update date: 180223
[Lr] Last revision date:180223
[St] Status:Publisher

  8 / 4819 MEDLINE  
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[PMID]: 29351342
[Au] Autor:van der Ven AT; Kobbe B; Kohl S; Shril S; Pogoda HM; Imhof T; Ityel H; Vivante A; Chen J; Hwang DY; Connaughton DM; Mann N; Widmeier E; Taglienti M; Schmidt JM; Nakayama M; Senguttuvan P; Kumar S; Tasic V; Kehinde EO; Mane SM; Lifton RP; Soliman N; Lu W; Bauer SB; Hammerschmidt M; Wagener R; Hildebrandt F
[Ad] Address:Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.
[Ti] Title:A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
[So] Source:PLoS One;13(1):e0191224, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be explained by mutations in these 40 genes. To identify additional monogenic causes of CAKUT, we performed whole exome sequencing (WES) and homozygosity mapping (HM) in a patient with CAKUT from Indian origin and consanguineous descent. We identified a homozygous missense mutation (c.1336C>T, p.Arg446Cys) in the gene Von Willebrand factor A domain containing 2 (VWA2). With immunohistochemistry studies on kidneys of newborn (P1) mice, we show that Vwa2 and Fraser extracellular matrix complex subunit 1 (Fras1) co-localize in the nephrogenic zone of the renal cortex. We identified a pronounced expression of Vwa2 in the basement membrane of the ureteric bud (UB) and derivatives of the metanephric mesenchyme (MM). By applying in vitro assays, we demonstrate that the Arg446Cys mutation decreases translocation of monomeric VWA2 protein and increases translocation of aggregated VWA2 protein into the extracellular space. This is potentially due to the additional, unpaired cysteine residue in the mutated protein that is used for intermolecular disulfide bond formation. VWA2 is a known, direct interactor of FRAS1 of the Fraser-Complex (FC). FC-encoding genes and interacting proteins have previously been implicated in the pathogenesis of syndromic and/or isolated CAKUT phenotypes in humans. VWA2 therefore constitutes a very strong candidate in the search for novel CAKUT-causing genes. Our results from in vitro experiments indicate a dose-dependent neomorphic effect of the Arg446Cys homozygous mutation in VWA2.
[Mh] MeSH terms primary: Biomarkers, Tumor/genetics
Fraser Syndrome/genetics
Mutation, Missense
Urogenital Abnormalities/genetics
Vesico-Ureteral Reflux/genetics
[Mh] MeSH terms secundary: Amino Acid Sequence
Amino Acid Substitution
Animals
Animals, Newborn
Biomarkers, Tumor/chemistry
Child
Consanguinity
Conserved Sequence
Exons
Extracellular Matrix Proteins/genetics
Extracellular Matrix Proteins/metabolism
Gene Expression Regulation, Developmental
Homozygote
Humans
Male
Mice
Models, Animal
Models, Molecular
Pedigree
Sequence Homology, Amino Acid
Urogenital System/growth & development
Urogenital System/metabolism
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Biomarkers, Tumor); 0 (Extracellular Matrix Proteins); 0 (Fras1 protein, mouse); 0 (VWA2 protein, human); 0 (Vwa2 protein, mouse)
[Em] Entry month:1802
[Cu] Class update date: 180221
[Lr] Last revision date:180221
[Js] Journal subset:IM
[Da] Date of entry for processing:180120
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191224

  9 / 4819 MEDLINE  
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[PMID]: 29298444
[Au] Autor:Niida Y; Inoue M; Ozaki M; Takase E
[Ad] Address:Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Uchinada, Japan.
[Ti] Title:Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.
[So] Source:Cytogenet Genome Res;153(2):56-65, 2017.
[Is] ISSN:1424-859X
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6.6-Mb deletion of 2q14.1q14.3. Patient 2 is a 2-year-old girl with Greig cephalopolysyndactyly contiguous gene deletion syndrome. She manifested macrocephaly, preaxial polysyndactyly, psychomotor developmental delay, cerebral cavernous malformations, and glucose intolerance due to a 6.2-Mb deletion of 7p14.1p12.3 which included GLI3, GCK, and CCM2. Each patient manifests a different phenotype which is associated with different functions of each GLI gene and different effects of the chromosomal contiguous gene deletion. We summarize the phenotypic extent of GLI2/3 syndromes in the literature and determine that these 2 syndromes manifest opposite features to a certain extent, such as midface hypoplasia or macrocephaly, and anterior or posterior side of polydactyly. We propose a GLIA/R balance model that may explain these findings.
[Mh] MeSH terms primary: Abnormalities, Multiple/genetics
Acrocephalosyndactylia/genetics
Chromosomes, Human, Pair 2/ultrastructure
Chromosomes, Human, Pair 7/ultrastructure
Nerve Tissue Proteins/deficiency
Nuclear Proteins/deficiency
Zinc Finger Protein Gli2/deficiency
Zinc Finger Protein Gli3/deficiency
[Mh] MeSH terms secundary: Adolescent
Child, Preschool
Chromosomes, Human, Pair 2/genetics
Chromosomes, Human, Pair 7/genetics
Cleft Palate/genetics
Dwarfism/genetics
Female
Glucose Intolerance/genetics
Hedgehog Proteins/physiology
Hemangioma, Cavernous, Central Nervous System/genetics
Humans
Intellectual Disability/genetics
Karyotyping
Models, Biological
Morphogenesis/genetics
Nerve Tissue Proteins/genetics
Nerve Tissue Proteins/physiology
Nuclear Proteins/genetics
Nuclear Proteins/physiology
Oligonucleotide Array Sequence Analysis
Phenotype
Sequence Deletion
Signal Transduction/genetics
Syndrome
Zinc Finger Protein Gli2/genetics
Zinc Finger Protein Gli2/physiology
Zinc Finger Protein Gli3/genetics
Zinc Finger Protein Gli3/physiology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (GLI2 protein, human); 0 (GLI3 protein, human); 0 (Hedgehog Proteins); 0 (Nerve Tissue Proteins); 0 (Nuclear Proteins); 0 (SHH protein, human); 0 (Zinc Finger Protein Gli2); 0 (Zinc Finger Protein Gli3)
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[Js] Journal subset:IM
[Da] Date of entry for processing:180104
[St] Status:MEDLINE
[do] DOI:10.1159/000485227

  10 / 4819 MEDLINE  
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[PMID]: 29303941
[Au] Autor:Ali MJ; Gupta S; Patel A; Naik MN
[Ti] Title:Lacrimal Drainage Anomalies in Fraser Syndrome.
[So] Source:Ophthal Plast Reconstr Surg;34(1):92-93, 2018 Jan/Feb.
[Is] ISSN:1537-2677
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Dacryocystorhinostomy/methods
Fraser Syndrome/complications
Lacrimal Apparatus Diseases/etiology
Lacrimal Apparatus/diagnostic imaging
[Mh] MeSH terms secundary: Child
Fraser Syndrome/diagnosis
Humans
Lacrimal Apparatus/surgery
Lacrimal Apparatus Diseases/diagnosis
Lacrimal Apparatus Diseases/surgery
Male
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180219
[Lr] Last revision date:180219
[Js] Journal subset:IM
[Da] Date of entry for processing:180106
[St] Status:MEDLINE
[do] DOI:10.1097/IOP.0000000000001026


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