Search our Database of Scientific Publications and Authors

I’m looking for a

    3210 results match your criteria Supernumerary Digit

    1 OF 65

    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 Aug 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 Aug 16. 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 Jul 12. 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 Jul 14. Epub 2017 Jul 14.
    National Institute of Genetics
    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 Jul 14. Epub 2017 Jul 14.
    Department of Dermpath Diagnostics, New York, Port Chester, NY, USA.
    Background: We previously demonstrated the presence of onychodermis, a specialized mesenchymal cell population beneath the 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 Sep 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

    "On-Top Plasty" for Radial Polydactyly Reconstruction.
    J Hand Surg Am 2017 Jun 29. Epub 2017 Jun 29.
    Charles E. Seay, Jr. Hand Center, Texas Scottish Rite Hospital for Children, Dallas, TX. Electronic address:
    Purpose: To introduce the "on-top plasty" technique and report our long-term outcomes.

    Methods: We evaluated 5 thumbs in 5 patients who underwent radial polydactyly reconstruction using the "on-top plasty" technique between 1998 and 2003. This technique was used when it was felt that neither thumb possessed adequate proximal and distal structures to provide a functional and aesthetically pleasing thumb. Read More

    A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.
    J Clin Res Pediatr Endocrinol 2017 Jun 30. Epub 2017 Jun 30.
    Rabson Mendenhall Syndrome (RMS) is an autosomal recessive disorder due to the mutations in insulin receptor gene (INSR), which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge and growth retardation. Read More

    Incidence of Acute Complications Following Surgery for Syndactyly and Polydactyly: An Analysis of the National Surgical Quality Improvement Program Database from 2012 to 2014.
    J Hand Surg Am 2017 Jun 22. Epub 2017 Jun 22.
    Robert A. Chase Hand and Upper Limb Center, Stanford University Medical Center, Palo Alto, CA.
    Purpose: Congenital hand differences are infrequent phenomena, and their treatment represents a relatively small fraction of cases performed by hand surgeons. Little is known about the incidence of wound complications and acute postoperative problems given the relative rarity of these procedures. This study sought to characterize the incidence of complications within 30 days of surgery for congenital hand differences. Read More

    Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
    Am J Hum Genet 2017 Jul 15;101(1):23-36. Epub 2017 Jun 15.
    Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:
    Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. Read More

    Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
    Sci China Life Sci 2017 Jul 14;60(7):739-745. Epub 2017 Jun 14.
    Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children of Ministry of Education; Nephrology Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
    Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. Read More

    Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
    Pediatr Nephrol 2017 Jun 15. Epub 2017 Jun 15.
    Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.
    Background: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly. Read More

    Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
    Am J Med Genet A 2017 Aug 9;173(8):2201-2209. Epub 2017 Jun 9.
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
    Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24. Read More

    Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
    J Ultrasound 2017 Jun 4;20(2):167-170. Epub 2017 Jan 4.
    Department of Obstetrics and Gynecology, Maulana Azad Medical College, New Delhi, India.
    Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy. Read More

    Analysis of surgical results and of residual postoperative deformities in preaxial polydactyly of the hand.
    J Plast Reconstr Aesthet Surg 2017 May 22. Epub 2017 May 22.
    Department of Surgery and Anatomy, Division of Plastic Surgery, Ribeirão Preto Medical School, University of São Paulo, Avenida Bandeirantes 3900, 9.°andar, Campus Universitário s/n - Monte Alegre, CEP 14048-900, Ribeirão Preto, SP, Brazil. Electronic address:
    Purpose: Polydactyly is the most common congenital anomaly of the hand. It may occur as a separate event or as part of a syndrome, with preaxial polydactyly of the hand (or thumb duplication) being the most common among Caucasians. The present study analyzed the surgical results and the residual postoperative deformities of patients with thumb duplication. Read More

    Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome.
    Indian J Orthop 2017 May-Jun;51(3):330-333
    Department of Spine Surgery, Ganga Hospital, Coimbatore, Tamil Nadu, India.
    Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. Read More

    Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
    JAMA Neurol 2017 Jul;74(7):806-812
    Institute of Neurogenetics, University Lübeck, Lübeck, Germany.
    Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum.

    Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment).

    Design, Setting, And Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations. Read More

    Noncontiguous Double Spinal Lipoma with Tethered Cord and Polydactyly: Two Different Embryological Events in One Patient.
    J Pediatr Neurosci 2017 Jan-Mar;12(1):43-45
    Department of Neurosurgery, MR Medical College, Kalaburagi, Karnataka, India.
    Lumbosacral lipoma is reported to occur in 4-8 of 100,000 patients. Sixty-six percent of lipomyelomeningocele in young patients have accompanied by hypertrophic filum terminale. It is rare to find two isolated spinal lipomas simultaneously. Read More

    Immunogenicity and immunomodulatory effects of the human chondrocytes, hChonJ.
    BMC Musculoskelet Disord 2017 May 18;18(1):199. Epub 2017 May 18.
    Institute of BioInnovation Research, Kolon Life Science, Inc., Gasan-dong, Geumcheon-gu, Seoul, Korea.
    Background: Invossa™ (TissueGene-C) is a cell and gene therapy for osteoarthritis. It is composed of primary human chondrocytes (hChonJ cells) and irradiated human chondrocytes modified to express TGF-β1 (hChonJb#7 cells). The hChonJ cells were isolated from a polydactyly donor, and TGF-β1 cDNA was delivered to the cells, generating hChonJb#7 cells. Read More

    Achondroplasia with Polydactyly: A Case Report.
    J Clin Diagn Res 2017 Mar 1;11(3):ZD14-ZD15. Epub 2017 Mar 1.
    Professor, Department of Oral Medicine and Radiology, Priyadarshini Dental College and Hospital, Tiruvallur, Tamil Nadu, India.
    An eight-year-old girl child reported to the Department of Oral Medicine and Radiology with the chief complaint of unerupted permanent teeth for past two years. The child presented features like disproportionately short stature, rhizomelic shortening of arms and legs, long face, frontal bossing and saddle nose. Based on the findings of chest and spine radiographs and ultrasound the case was diagnosed as a rare bone disorder "Achondroplasia". Read More

    Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms.
    J Clin Diagn Res 2017 Mar 1;11(3):ND01-ND02. Epub 2017 Mar 1.
    Junior Resident, Department of Otorhinolaryngology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India.
    Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Read More

    Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
    J Mol Diagn 2017 Jul 11;19(4):487-497. Epub 2017 May 11.
    Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:
    Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, and megalencephalyepolymicrogyria-polydactyly-hydrocephalus syndrome. Read More

    Genetic pattern and gene localization of polydactyly in Beijing fatty chicken.
    PLoS One 2017 10;12(5):e0176113. Epub 2017 May 10.
    Department of Animal Science, School of Agriculture and Biology, Shanghai Jiao Tong University; Shanghai Key Laboratory of Veterinary Biotechnology, Shanghai, China.
    Polydactyly, a common heritable limb malformation in vertebrates, is characterized by supernumerary digits. In chickens, basic characteristics and rough dominant genes have been explored in past decades; however, the elaborate pattern of inheritance and the determinant gene remain obscure. In this study, different types of polydactylism were classified by the numbers and the shapes of toes, including the newly defined subtypes of B' and G, for the Beijing fatty chicken, a native breed of chicken from China. Read More

    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.
    Eur J Hum Genet 2017 Aug 10;25(8):960-965. Epub 2017 May 10.
    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
    Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present study involved characterization of large consanguineous family of Pakistani origin segregating post-axial polydactyly type A, restricted to lower limb, in autosomal recessive pattern. Read More

    An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.
    Sci Rep 2017 May 9;7(1):1601. Epub 2017 May 9.
    Department of Pathology, Dunedin School of Medicine, University of Otago, PO Box 56, Dunedin 9054, New Zealand.
    Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p. Read More

    Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling.
    Hum Mol Genet 2017 May 9. Epub 2017 May 9.
    Program for Skeletal Disease and Tumor Metastasis, Center for Cancer and Cell Biology, Van Andel Research Institute, Grand Rapids, MI, 49503. USA.
    Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. Read More

    Dynein-Driven Retrograde Intraflagellar Transport Is Triphasic in C. elegans Sensory Cilia.
    Curr Biol 2017 May 4;27(10):1448-1461.e7. Epub 2017 May 4.
    Tsinghua-Peking Center for Life Sciences, School of Life Sciences and MOE Key Laboratory for Protein Science, Tsinghua University, Beijing 100084, China. Electronic address:
    Cytoplasmic dynein-2 powers retrograde intraflagellar transport that is essential for cilium formation and maintenance. Inactivation of dynein-2 by mutations in DYNC2H1 causes skeletal dysplasias, and it remains unclear how the dynein-2 heavy chain moves in cilia. Here, using the genome-editing technique to produce fluorescent dynein-2 heavy chain in Caenorhabditis elegans, we show by high-resolution live microscopy that dynein-2 moves in a surprising way along distinct ciliary domains. Read More

    [A rare cause of hyponatraemia: McKittrick-Wheelock syndrome. Case report].
    Orv Hetil 2017 May;158(18):711-714
    Általános Belgyógyászati Osztály, Markusovszky Egyetemi Oktatókórház Szombathely, Markusovszky Lajos u. 5., 9700.
    Authors present a case of acute renal failure and hyponatraemia caused by a secretory tubulovillous adenoma of the colon, the rare so called McKittrick-Wheelock syndrome. A 75 year old woman was in need of treatment many times on medical wards because of watery diarrhoea, severe dehydration, hydroelectrolyte disturbance. The authors keep their case to be worthy to present, owing to the syndrome's rarity and difficulties of differential diagnosis. Read More

    Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
    Am J Med Genet A 2017 Jun 19;173(6):1698-1704. Epub 2017 Apr 19.
    Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.
    We previously reported exome sequencing in a short-rib thoracic dystrophy (SRTD) cohort, in whom recessive mutations were identified in SRTD-associated genes in 10 of 11 cases. A heterozygous stop mutation in the known SRTD gene WDR60 was identified in the remaining case; no novel candidate gene/s were suggested by homozygous/compound heterozygous analysis. This case was thus considered unsolved. Read More

    Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
    Cilia 2017 10;6. Epub 2017 Apr 10.
    Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, CA 90095 USA.
    Background: Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal condition characterized by a long narrow chest, markedly shortened long bones, polydactyly and, often, multi-organ system involvement. SRPS shows extensive locus heterogeneity with mutations in genes encoding proteins that participate in cilia formation and/or function. Read More

    Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.
    Clin Case Rep 2017 Apr 2;5(4):449-453. Epub 2017 Mar 2.
    Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
    Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly. Read More

    Self-Amputation of the Extra Digit in a Fetus with Polydactyly: First Ultrasound Demonstration.
    Fetal Diagn Ther 2017 8;41(4):314-316. Epub 2017 Apr 8.
    Department of Obstetrics and Gynecology, Parma University Hospital, Parma, Italy.
    We herein report the first ultrasound evidence of the self-amputation of an extra digit in case of fetal polydactyly. The prenatal evidence of fetal polydactyly is not always followed by postnatal confirmation. This is not always due to ultrasound misdiagnosis, but often to an in utero self-amputation phenomenon. Read More

    Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse.
    Hum Mol Genet 2017 Jul;26(13):2386-2397
    Department of Genetic Medicine, Weill Medical College of Cornell University, W404, New York, NY 10065,USA.
    The Wdr34 gene encodes an intermediate chain of cytoplasmic dynein 2, the motor for retrograde intraflagellar transport (IFT) in primary cilia. Although mutations in human WDR34 have recently been reported, the association of WDR34 function with Hedgehog (Hh) signaling has not been established, and actual cilia defects in the WDR34 mutant cells have also not been completely characterized. In the present study, we show that Wdr34 mutant mice die in midgestation and exhibit open brain and polydactyly phenotypes. Read More

    Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
    Eur J Med Genet 2017 Jul 1;60(7):359-364. Epub 2017 Apr 1.
    Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada. Electronic address:
    The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. The X-chromosome is known to contain many ID-related genes and males show a marked predominance for intellectual disability. Here we report two females with syndromic intellectual disability. Read More

    1 OF 65