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    Cell cycle-related kinase regulates mammalian eye development through positive and negative regulation of the Hedgehog pathway.
    Dev Biol 2017 Nov 19. Epub 2017 Nov 19.
    Department of Genetics, University of Georgia, Athens, GA 30602. Electronic address:
    Cell cycle-related kinase (CCRK) is a conserved regulator of ciliogenesis whose loss in mice leads to a wide range of developmental defects, including exencephaly, preaxial polydactyly, skeletal abnormalities, and microphthalmia. Here, we investigate the role of CCRK in mouse eye development. Ccrk mutants show dramatic patterning defects, with an expansion of the optic stalk domain into the optic cup, as well as an expansion of the retinal pigment epithelium (RPE) into neural retina (NR) territory. Read More

    Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.
    Am J Med Genet A 2017 Nov 21. Epub 2017 Nov 21.
    Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
    Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. Read More

    Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
    Am J Med Genet A 2017 Nov 21. Epub 2017 Nov 21.
    Department of Orthopaedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
    The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome with an estimated prevalence of 1:4,000 live births. Read More

    Firm Elevation of Reconstructed Auricle Using Polydactyly Digit in Microtia.
    J Craniofac Surg 2017 Nov 9. Epub 2017 Nov 9.
    Department of Plastic and Reconstructive Surgery, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, Korea.
    Total ear reconstruction for microtia is usually accomplished in 2 stages which is known as Nagata technique. After framework fabrication and implantation, the elevation procedure is required as a second step surgery. The authors are introducing a novel material for augmenting projection of rib cartilage framework in microtia treatment. Read More

    Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
    J Med Genet 2017 Nov 10. Epub 2017 Nov 10.
    Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
    Background: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype.

    Methods: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Read More

    Familial Pallister-Hall in adulthood.
    • Authors:
    Neuro Endocrinol Lett 2017 Oct 6;38(5):329-331. Epub 2017 Oct 6.
    Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. Read More

    Homozygous Dkk1 Knockout Mice Exhibit High Bone Mass Phenotype Due to Increased Bone Formation.
    Calcif Tissue Int 2017 Nov 6. Epub 2017 Nov 6.
    Orthopaedic Research & Biotechnology Unit, The Children's Hospital at Westmead, Research Building, Locked Bag 4001, Westmead, NSW, 2145, Australia.
    Wnt antagonist Dkk1 is a negative regulator of bone formation and Dkk1 (+/-) heterozygous mice display a high bone mass phenotype. Complete loss of Dkk1 function disrupts embryonic head development. Homozygous Dkk1 (-/-) mice that were heterozygous for Wnt3 loss of function mutation (termed Dkk1 KO) are viable and allowed studying the effects of homozygous inactivation of Dkk1 on bone formation. Read More

    A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.
    Calcif Tissue Int 2017 Nov 2. Epub 2017 Nov 2.
    Department of Orthopaedic Surgery, University of Virginia, 135 Hospital Dr., Charlottesville, VA, 22908, USA.
    An autosomal-recessive inactivating mutation R272Q in the human intestinal cell kinase (ICK) gene caused profound multiplex developmental defects in human endocrine-cerebro-osteodysplasia (ECO) syndrome. ECO patients exhibited a wide variety of skeletal abnormalities, yet the underlying mechanisms by which ICK regulates skeletal development remained largely unknown. The goal of this study was to understand the structural and mechanistic basis underlying skeletal anomalies caused by ICK dysfunction. Read More

    Treatment of postaxial polydactyly with plantar plate and medial collateral ligament reconstruction after supernumerary excision: A case report.
    SAGE Open Med Case Rep 2017 17;5:2050313X17737197. Epub 2017 Oct 17.
    Department of Orthopedics, Hospital Clinico, University of Chile, Santiago, Chile.
    Introduction: Polydactyly is the most common congenital foot anomaly and consists of partial or complete duplication of a toe. Traditionally, surgical treatment has been amputation. There is little evidence when surgical treatment requires repairing the stabilizing structures of the metatarsophalangeal joint. Read More

    Management of Postaxial Polydactyly in the Neonatal Unit.
    J Am Osteopath Assoc 2017 Nov;117(11):719-721
    Postaxial type B polydactyly is the presence of a supernumerary digit attached by soft tissue in a pedunculated fashion to the fifth digit. In the present case, a newborn with bilateral postaxial type B polydactyly underwent suture ligation to remove the supernumerary digit, but multiple ligation attempts were required. Ultimately, residual tissue remained bilaterally, but it did not seem to be painful. Read More

    Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
    Hum Mutat 2017 Oct 25. Epub 2017 Oct 25.
    Department of Molecular, Cell, and Developmental Biology, University of California at Los Angeles, Los Angeles, California.
    Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (CED) phenotypes. Read More

    Review and experimental evaluation of the embryonic development and evolutionary history of flipper development and hyperphalangy in dolphins (Cetacea: Mammalia).
    Genesis 2017 Oct 25. Epub 2017 Oct 25.
    Department of Anatomy and Neurobiology, NEOMED, Rootstown, OH, 44272-0095.
    Cetaceans are the only mammals to have evolved hyperphalangy, an increase in the number of phalanges beyond the mammalian plesiomorphic condition of three phalanges per digit. In this study, cetaceans were used as a novel model to review previous studies of mammalian hyperphalangy and contribute new experimental evidence as to the molecular origins of this phenotype in embryos of the pantropical spotted dolphin (Stenella attenuata). Results show embryos of dolphins, mice, and pigs share similar spatiotemporal patterns of signaling proteins known to shape limbs of mammals (e. Read More

    Defective ciliogenesis in INPP5E-related Joubert syndrome.
    Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.
    NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
    Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Read More

    BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.
    PLoS Genet 2017 Oct 19;13(10):e1007057. Epub 2017 Oct 19.
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States.
    Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored. Read More

    Isolated heptadactylia: A case report of central polydactyly of the foot.
    Medicine (Baltimore) 2017 Oct;96(42):e8324
    Pediatric Orthopedics and Traumatology Unit, Lausanne University Hospital, Lausanne, Switzerland.
    Rationale: Heptadactylia is a rare congenital disorder from the polydactyly family. Polydactyly is generally classified into 3 major groups: preaxial (medial ray), postaxial (lateral ray), and central polydactyly. Most common cases are related to preaxial or postaxial polydactyly. Read More

    Association of SNP rs80659072 in the ZRS with polydactyly in Beijing You chickens.
    PLoS One 2017 9;12(10):e0185953. Epub 2017 Oct 9.
    Institute of Animal Husbandry and Veterinary Medicine, Beijing Academy of Agriculture and Forestry Sciences, Beijing, P. R. China.
    The Beijing You chicken is a Chinese native breed with superior meat quality and a unique appearance. The G/T mutation of SNP rs80659072 in the Shh long-range regulator of GGA2 is highly associated with the polydactyly phenotype in some chicken breeds. In the present study, this SNP was genotyped using the TaqMan detection method, and its association with the number of toes was analyzed in a flock of 158 birds of the Beijing You population maintained at the Beijing Academy of Agriculture and Forestry Sciences. Read More

    GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
    Hum Mol Genet 2017 Dec;26(23):4556-4571
    Instituto de Investigaciones Biomédicas 'Alberto Sols', CSIC-UAM, 28029 Madrid, Spain.
    GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action of Hedgehog (Hh) morphogens. Accordingly, inactivating variants in GLI2 and GLI3 are found in several developmental disorders. In contrast, loss-of-function mutations in GLI1 have remained elusive, maintaining enigmatic the role of this gene in the human embryo. Read More

    Adult Survival in Ellis-van Creveld Syndrome with Common Atrium - A Rare Case Report.
    J Clin Diagn Res 2017 Aug 1;11(8):OD12-OD13. Epub 2017 Aug 1.
    Consultant Physician, Department of Medicine, Vinaya Hospital, Kundapur, Karnataka, India.
    Ellis-van Creveld syndrome is a rare genetic disorder, characterized by chondral dysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. Patients with this syndrome rarely survive into adulthood. The syndrome has also been rarely reported in the Indian population. Read More

    Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
    Am J Hum Genet 2017 Oct 28;101(4):552-563. Epub 2017 Sep 28.
    Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy; Department of Molecular Medicine, University of Pavia, Pavia 27100, Italy. Electronic address:
    The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Read More

    Preaxial polydactyly of the foot.
    Acta Orthop 2017 Sep 26:1-6. Epub 2017 Sep 26.
    a Departments of Plastic and Reconstructive Surgery and Hand Surgery , Erasmus MC, University Medical Center , Rotterdam , the Netherlands.
    Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review was based on the Human Phenotype Ontology (HPO) project. Read More

    Hypoglycaemia Represents a Clinically Significant Manifestation of PIK3CA- and CCND2-Associated Segmental Overgrowth.
    Clin Genet 2017 Sep 23. Epub 2017 Sep 23.
    Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre.
    The PI3K-AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Read More

    Early prenatal diagnosis of a lumbo-costo-vertebral syndrome.
    J Med Ultrason (2001) 2017 Sep 13. Epub 2017 Sep 13.
    Department of Obstetrics and Gynecology, University of Medicine and Pharmacy "Grigore T. Popa", Str. Universitatii 16, 700115, Iasi, Romania.
    Lumbo-costo-vertebral syndrome (LCVS) is a rare type of lumbar hernia with associated abnormalities of the vertebral bodies, ribs, and trunk muscles. Only a few cases have been reported in the literature, all of which were diagnosed after birth. We present a case of LCVS diagnosed early in the second trimester of pregnancy using two- and three-dimensional ultrasound. Read More

    Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
    Am J Med Genet A 2017 Nov 10;173(11):2898-2905. Epub 2017 Sep 10.
    Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
    Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT-families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT-population. Read More

    A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.
    Am J Med Genet A 2017 Dec 8;173(12):3221-3225. Epub 2017 Sep 8.
    Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
    Mutations in GLI3, which encodes a transcription factor of the Hedgehog signaling pathway, cause several developmental anomalies linked to inappropriate tissue patterning. Here, we report a novel missense variant in the fifth zinc finger domain of GLI3 (c.1826G>A; p. Read More

    Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
    Eur J Med Genet 2017 Dec 12;60(12):658-666. Epub 2017 Sep 12.
    Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait. Electronic address:
    Exome sequencing is becoming widely popular and affordable, making it one of the most desirable methods for the identification of rare genetic variants for clinical diagnosis. Here, we report the clinical application of whole exome sequencing for the ultimate diagnosis of a ciliary chondrodysplasia case presented with an initial clinical diagnosis of Asphyxiating Thoracic Dystrophy (ATD, Jeune Syndrome). We have identified a novel homozygous missense mutation in WDR35 (c. Read More

    Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities.
    Int J Mol Cell Med 2017 17;6(1):61-65. Epub 2017 Jan 17.
    Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
    Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo sSMC. Here we report on the prenatal diagnosis of a mosaic tetrasomy 18p due to presence of an sSMC in a fetus without abnormal sonographic signs. Read More

    Santos syndrome is caused by mutation in the WNT7A gene.
    J Hum Genet 2017 Aug 31. Epub 2017 Aug 31.
    Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, SP, Brazil.
    We have recently described a family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild brachydactyly and occasional pre-axial polydactyly. Autosomal dominant inheritance with incomplete penetrance was suggested, but autosomal recessive inheritance could not be ruled out, due to the high frequency of consanguineous matings in the region where the family lived. This report deals with linkage studies and exome sequencing, disclosing a novel variant in WNT7A, c. Read More

    Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).
    Nat Genet 2017 Oct 28;49(10):1539-1545. Epub 2017 Aug 28.
    Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.
    Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosynostosis and synpolydactyly. We show through transgenic reporter and genome-editing studies in mice that Ihh is regulated by a constellation of at least nine enhancers with individual tissue specificities in the digit anlagen, growth plates, skull sutures and fingertips. Read More

    Insights on the role of hox genes in the emergence of the pentadactyl ground state.
    Genesis 2017 Aug 24. Epub 2017 Aug 24.
    Laboratory of Genetics and Development, Institut de Recherches Cliniques de Montréal (IRCM), 110 avenue des Pins Ouest, Montréal, QC, H2W1R7, Canada.
    Tetrapods are characterized by the presence of digits at the distal end of their limbs, which have emerged during the transition from fins to limbs. While variations in digit number are observed in extant tetrapods, most have five digits per limb and divergence from this pentadactyl ground state is always a reduction in digit number. Paleontological data revealed that stem-group tetrapods were polydactylous indicating that the evolution from fish fin to modern tetrapod limbs involved two major transitions; the emergence of digits and the shift from polydactyly to pentadactyly. Read More

    Digit-Like Bony Anomaly of the Hindfoot: A Case Report.
    J Foot Ankle Surg 2017 Aug 18. Epub 2017 Aug 18.
    Surgeon, Department of Orthopaedic and Trauma Surgery, Kantonsspital Winterthur, Winterthur, Switzerland. Electronic address:
    We report the case of an asymptomatic digit-like bony anomaly located on the plantar aspect of the calcaneus, which was incidentally found on radiographs of a 50-year-old male with a tibial shaft fracture. To the best of our knowledge, this is the first description of such an anomaly in the foot. The differential diagnosis includes accessory ossicles, polydactyly, heel spur, heterotopic ossification, osteochondroma, and pelvic digits. Read More

    Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).
    Front Mol Biosci 2017 31;4:55. Epub 2017 Jul 31.
    Grupo de Biomarcadores Moleculares, Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de VigoVigo, Spain.
    Bardet-Biedl syndrome (BBS) is a rare genetic disorder that belongs to the group of ciliopathies, defined as diseases caused by defects in cilia structure and/or function. The six diagnostic features considered for this syndrome include retinal dystrophy, obesity, polydactyly, cognitive impairment and renal and urogenital anomalies. Furthermore, three of the 21 genes currently known to be involved in BBS encode chaperonin-like proteins (MKKS/BBS6, BBS10, and BBS12), so BBS can be also considered a member of the growing group of chaperonopathies. Read More

    On-top and side-to-side plasties for thumb polydactyly.
    Int J Surg Case Rep 2017 8;39:88-92. Epub 2017 Aug 8.
    From the Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia. Electronic address:
    Introduction: "On-top" and "side-to-side" plasties are techniques used for treating thumb duplications in which one thumb is adequate proximally and the other thumb contains a better pulp and nail distally. The detailed functional results of these techniques have not been reported in the literature. We report on two cases. Read More

    Oblique osteotomy for the correction of the zigzag deformity of Wassel type IV polydactyly.
    Plast Reconstr Surg 2017 Aug 8. Epub 2017 Aug 8.
    1 Department of Plastic and Reconstructive Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea 2Department of Plastic and Reconstructive Surgery, Armed Forces Capital Hospital, Seongnam, Republic of Korea.
    Background: Surgical treatment of the Wassel type IV polydactyly of the thumb is technically challenging, especially when it has a diamond-shape or zigzag deformity. However, we obtained good operative results by performing oblique osteotomy with autologous fat graft in 30 patients with zigzag deformity polydactyly.

    Methods: Following removal of the radial-sided extra digit, the radially-deviated distal phalanx (DP) was corrected by performing oblique osteotomy at the proximal phalanx (PP). Read More

    Lingual Frenectomy in Joubert Syndrome.
    J Contemp Dent Pract 2017 Aug 1;18(8):728-731. Epub 2017 Aug 1.
    Department of Prosthodontics, Bharati Vidyapeeth Deemed University Medical College and Hospital, Sangli, Maharashtra India.
    Aim: Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones.

    Background: Ciliopathies are an emerging class of diseases of which JS is a significant member. There have been very few cases of JS with its distinguishing features which have been reported in recent literature. Read More

    Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.
    Am J Med Genet A 2017 Oct 16;173(10):2821-2825. Epub 2017 Aug 16.
    Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
    Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder characterized by hypertrichosis, intellectual disability, and dysmorphic facial appearances (down-slanted vertically narrow palpebral fissures, wide nasal bridge, broad nasal tip, and thick eyebrows). In 2012, Jones and co-workers identified heterozygous mutations in KMT2A (lysine methyltransferase 2A) as the molecular cause of WDSTS. Although the phenotype of this syndrome continues to expand, the associated features are not fully understood. Read More

    The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.
    Pediatr Dev Pathol 2017 Sep-Oct;20(5):449-454. Epub 2017 Feb 8.
    8 Geneton, s.r.o., Bratislava, Slovak Republic.
    Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. Read More

    A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
    Hum Genome Var 2017 10;4:17033. Epub 2017 Aug 10.
    Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
    We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She presented with typical BBS features, including intellectual disability with emotional outbursts and mild obesity. Read More

    Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation.
    J Pediatr Genet 2017 Sep 10;6(3):194-197. Epub 2017 Apr 10.
    Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
    Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13 . It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and/or fourth toe (T4), and fifth toe (T5) with variably associated polydactyly. We report on a mother and fetus with SPD. Read More

    The Conserved Sonic Hedgehog Limb Enhancer Consists of Discrete Functional Elements that Regulate Precise Spatial Expression.
    Cell Rep 2017 Aug;20(6):1396-1408
    MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:
    Expression of sonic hedgehog (Shh) in the limb bud is regulated by an enhancer called the zone of polarizing activity regulatory sequence (ZRS), which, in evolution, belongs to an ancient group of highly conserved cis regulators found in all classes of vertebrates. Here, we examined the endogenous ZRS in mice, using genome editing to establish the relationship between enhancer composition and embryonic phenotype. We show that enhancer activity is a consolidation of distinct activity domains. Read More

    Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
    PLoS Genet 2017 Jul 28;13(7):e1006936. Epub 2017 Jul 28.
    Department of Biology, University of Iowa, Iowa City, Iowa, United States of America.
    Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare in BBS, and McKusick-Kaufman syndrome patients do not develop retinitis pigmentosa. Therefore, the McKusick-Kaufman syndrome allele may highlight cellular functions of BBS6 distinct from the presently understood functions in the cilia. Read More

    High Quality of Infant Chondrocytes in Comparison with Adult Chondrocytes for Cartilage Tissue Engineering.
    World J Plast Surg 2017 May;6(2):183-189
    Pediatric Surgery Ward, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
    Background: Tissue engineering is used for the treatment of many diseases, and the ideal cell source for cartilage tissue engineering is chondrocytes. The main limitation of chondrocyte is the low number of cells in cartilage tissue engineering. This study investigated a suitable cell source with high proliferation rate to obtain a large number of chondrocytes. Read More

    Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.
    Eur J Med Genet 2017 Oct 12;60(10):527-532. Epub 2017 Jul 12.
    Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, M13 9WL, United Kingdom; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, M13 9PL, United Kingdom.
    We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation, cleft palate, frontal bossing, hypertelorism and postaxial polydactyly. All three probands had lobulated tongues with tongue hamartomas, abnormal tongue tip, developmental delay and microcephaly, with just one proband demonstrating polydactlyly. Read More

    Two Types of Etiological Mutation in the Limb-Specific Enhancer of Shh.
    G3 (Bethesda) 2017 Sep 7;7(9):2991-2998. Epub 2017 Sep 7.
    Mammalian Genetics Laboratory, Genetic Strains Research Center, National Institute of Genetics, Mishima, Shizuoka 411-8540, Japan
    An enhancer named MFCS1 regulates Sonic hedgehog (Shh) expression in the posterior mesenchyme of limb buds. Several mutations in MFCS1 induce ectopic Shh expression in the anterior limb bud, and these result in preaxial polydactyly (PPD). However, the molecular basis of ectopic Shh expression remains elusive, although some mutations are known to disrupt the negative regulation of Shh expression in the anterior limb bud. Read More

    CD13 is a marker for onychofibroblasts within nail matrix onychodermis: Comparison of its expression patterns in the nail unit and in the hair follicle.
    J Cutan Pathol 2017 Nov 18;44(11):909-914. Epub 2017 Aug 18.
    Dermpath Diagnostics, Port Chester, New York.
    Background: We previously demonstrated the presence of onychodermis, a specialized mesenchymal cell population beneath the nail matrix and proximal nail bed demonstrating CD10 expression. We hypothesize that the onychodermis could be the nail analog of the follicular dermal papilla, which is known to express CD13. We compare CD13 expression patterns between specialized mesenchymes of nail and hair, and compare these findings with CD10 expression patterns. Read More

    [Co-occurrence of Carpenter syndrome and double outlet right ventricle].
    Turk Kardiyol Dern Ars 2017 Jul;45(5):454-457
    Department of Pediatrics, Division of Pediatric Cardiology, Selcuk University Faculty of Medicine, Konya, Turkey.
    Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may frequently be accompanied by congenital heart diseases such as ventricular septal defect, patent ductus arteriosus and pulmonary stenosis. Double outlet right ventricle is a defect in which both major arteries originate in the morphological right ventricle. Read More

    Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.
    Hereditas 2018 3;155. Epub 2017 Jul 3.
    State Key Laboratory for Conservation and Utilization of Bio-resources in Yunnan, Yunnan University, Kunming, China.
    Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the identity-by-decent (IBD) segments and compare the frequency among the patients and normal relatives. Read More

    Differential requirement of SUFU in tissue development discovered in a hypomorphic mouse model.
    Dev Biol 2017 09 5;429(1):132-146. Epub 2017 Jul 5.
    Department of Biosciences and Nutrition, Karolinska Institutet, SE-141 83 Huddinge, Sweden. Electronic address:
    Suppressor of Fused (SUFU) is an essential negative regulator of the Hedgehog (HH) pathway and involved in GLI transcription factor regulation. Due to early embryonic lethality of Sufu(-/-) mice, investigations of SUFU's role later in development are limited to conditional, tissue-specific knockout models. In this study we developed a mouse model (Sufu(Ex456(fl)/Ex456(fl))) with hypomorphic features where embryos were viable up to E18. Read More

    Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
    Cold Spring Harb Mol Case Stud 2017 Jul 5;3(4). Epub 2017 Jul 5.
    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.
    Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral-facial-digital, and Pallister-Hall syndromes including brain, limb, and craniofacial anomalies. We performed exome-sequence analysis on a proband and both parents, filtered for putative causative variants, and Sanger-verified variants of interest. Read More

    [Effects of different doses of dexmedetomidine combined with ropivacaine for brachial plexus nerve block in children undergoing polydactyly surgery].
    Nan Fang Yi Ke Da Xue Xue Bao 2017 Jun;37(6):833-836
    Department of Anesthesiology, Guangdong Women and Children's Hospital, Guangzhou 510010, China. E-mail:
    Objective: To observe the anesthetic effect and safety of different doses of dexmedetomidine combined with ropivacaine for brachial plexus nerve block in children undergoing polydactyly surgery.

    Methods: Eighty children undergoing polydactyly surgery were randomized into 4 groups to receive brachial plexus nerve block with dexmedetomidine at 0.25, 0. Read More

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