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    Severe disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
    J Allergy Clin Immunol 2017 Jun 16. Epub 2017 Jun 16.
    Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address:
    Background: Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to S32 and S36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation, and thus activation of the canonical NF-κB pathway. The outcome of hematopoietic stem cell transplantation is poor in AD EDA-ID despite achievement of chimerism. Mice heterozygous for the S32I mutation in IκBα have impaired non-canonical NF-κB activity and defective lymphorganogenesis. Read More

    Long-term dental management of a patient with features of Schöpf-Schulz-Passarge syndrome.
    Spec Care Dentist 2017 Jun 9. Epub 2017 Jun 9.
    Professor, Paediatric Dentistry, School of Dentistry, The University of Western Australia, Australia.
    Schöpf-Schulz-Passarge syndrome (SSPS) is thought to be a rare autosomal recessive condition similar to many other ectodermal dysplasias. Diagnosis is difficult, with many possible differential diagnoses; however, eyelid cysts are a commonly seen feature. This clinical report aims to highlight this and describe the dental features and management of this syndrome, which existing literature has not previously described. Read More

    Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
    J Clin Immunol 2017 Jun 9. Epub 2017 Jun 9.
    St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, USA.
    Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its subsequent degradation. Read More

    WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.
    Nat Commun 2017 Jun 7;8:15397. Epub 2017 Jun 7.
    Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
    Human WNT10A mutations are associated with developmental tooth abnormalities and adolescent onset of a broad range of ectodermal defects. Here we show that β-catenin pathway activity and adult epithelial progenitor proliferation are reduced in the absence of WNT10A, and identify Wnt-active self-renewing stem cells in affected tissues including hair follicles, sebaceous glands, taste buds, nails and sweat ducts. Human and mouse WNT10A mutant palmoplantar and tongue epithelia also display specific differentiation defects that are mimicked by loss of the transcription factor KLF4. Read More

    Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.
    Geburtshilfe Frauenheilkd 2017 Apr;77(4):377-382
    Universitätsklinikum Erlangen, Kinder- und Jugendklinik, Kompetenzzentrum für Ektodermale Dysplasien, Erlangen, Germany.
    Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. Read More

    Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
    Am J Med Genet A 2017 May 17. Epub 2017 May 17.
    Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
    The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay. Read More

    Cystinuria in a patient with 19q12q13.1 deletion.
    CEN Case Rep 2016 May 19;5(1):67-69. Epub 2015 Sep 19.
    Department of Genetics, Hospital Universitario de Getafe, Madrid, Spain.
    Cystinuria is a genetic cause of kidney stones with a prevalence of 1 in 7000 births. So far, two genes have been described responsible for this disorder (SLC3A1 and SLC7A9). We report a patient with an SLC7A9 gene mutation located in 19q13. Read More


    Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.
    Ann Plast Surg 2017 Jun;78(6):684-691
    From the *Department of Plastic and Cosmetic Surgery, Gansu Provincial Hospital, Lanzhou; †Department of Plastic & Reconstructive Surgery, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai; and ‡Plastic Surgery Hospital (Institute), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, P.R. China.
    Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. Read More

    Aplasia cutis congenita type V: a case report and review of the literature.
    Int J Dermatol 2017 Jun 8;56(6):e118-e121. Epub 2017 May 8.
    Washington State University Vancouver, Vancouver, WA, USA.
    Aplasia cutis congenita (ACC) is a relatively rare congenital anomaly that most commonly occurs as a solitary cutaneous defect on the scalp. Depth of involvement varies, and involvement of deeper calvarium and dural structures can be seen in more severe cases. Multiple classification systems have been devised with the Frieden Classification System being the most widely adopted. Read More

    APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES.
    Georgian Med News 2017 Mar(264):7-11
    Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany; Onkoderma - Policlinic of Dermatology and Dermatologic Surgery, Sofia, Bulgaria; Nirvana Skin Clinic, Vadodara, Gujarat, India; Medical Institute of MVR, Department of Dermatology and Venereology, Sofia, Bulgaria; Molecular Dermatology Research Center, Department of Dermatology, Shiraz University of Medical Sciences, Shiraz, Iran.
    Aplasia Cutis Congenita is a rare disorder with circumscribed, partial or widespread absence of skin and subcutaneous soft tissue; in about 20% it also causes skull defects. The disease is heterogeneous in its clinical presentation with nine major subtypes. Type I represents nonsyndromic Aplasia Cutis Congenita. Read More

    Extreme aplasia cutis congenita involving the skull.
    Childs Nerv Syst 2017 May 5. Epub 2017 May 5.
    Pediatric Neurosurgery, Children's of Alabama, Birmingham, AL, USA.
    Aplasia cutis congenita (ACC) is a rare congenital malformation of primarily the skin; it is most commonly seen on the scalp but can occur anywhere on the body. The exact etiology is still unclear but there are many suggested causes. Classification systems have been proposed to help categorize patients and assist with treatment. Read More

    Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.
    J Hum Genet 2017 Apr 27. Epub 2017 Apr 27.
    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
    Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. The etiology of this syndrome has remained largely unknown but defective Notch signaling during vascular formation has been suggested. Here we describe a sporadic Japanese newborn case with clinically diagnosed AOS. Read More


    Aplasia Cutis Congenita: Trichoscopy Findings.
    Int J Trichology 2016 Oct-Dec;8(4):184-185
    Department of Dermatology, Marília's Medical School, FAMEMA, Brazil.
    Aplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin that most commonly affects the scalp. We present a case of ACC in a 45-day-old girl and the dermoscopic findings. Dermoscopy has shown to be an easy, fast and useful method for the diagnosis of this condition. Read More

    EOGT and O-GlcNAc on secreted and membrane proteins.
    Biochem Soc Trans 2017 Apr;45(2):401-408
    Department of Cell Biology, Albert Einstein College of Medicine, New York, NY 10461, U.S.A.
    Here, we describe a recently discovered O-GlcNAc transferase termed EOGT for EGF domain-specific O-GlcNAc transferase. EOGT transfers GlcNAc (N-acetylglucosamine) to Ser or Thr in secreted and membrane proteins that contain one or more epidermal growth factor-like repeats with a specific consensus sequence. Thus, EOGT is distinct from OGT, the O-GlcNAc transferase, that transfers GlcNAc to Ser/Thr in proteins of the cytoplasm or nucleus. Read More

    A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
    BMC Med Genet 2017 Apr 12;18(1):42. Epub 2017 Apr 12.
    Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
    Background: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet. Read More

    Implant-supported Oral Rehabilitation in Child with Ectodermal Dysplasia - 4-year Follow-up.
    Bull Tokyo Dent Coll 2017 ;58(1):49-56
    Private Practice.
    Ectodermal dysplasia (ED) is an anomaly determined by genetic factors that alter ectodermal structures such as skin, hair, nails, glands, and teeth. Children affected by this condition require extensive, comprehensive, and multidisciplinary treatment. An 8-year-old female patient visited the Dentistry Clinic of the Federal University of Santa Catarina with the chief complaint of multiple missing teeth. Read More

    Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
    Arq Bras Oftalmol 2017 Jan-Feb;80(1):49-51
    Department of Ophthalmology and Visual Sciences, University of Wisconsin, Wisconsin, USA.
    Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. Read More

    Evaluation of Masticatory Stimulation Effect on the Maxillary Transversal Growth in Ectodermal Dysplasia Children.
    Int J Clin Pediatr Dent 2017 Jan-Mar;10(1):55-61. Epub 2017 Feb 27.
    Professor, Department of Mathematics, Faculty of Sciences, Lebanese University, Beirut, Lebanon.
    Aims: Severe oligodontia is one of the most important symptoms in children with hypohidrotic ectodermal dysplasia (HED). The growth of the maxilla is a key consideration in restoring their mouth. The aim of this study was to evaluate the transversal maxillary sutural growth, after passive masticatory stimulation, in HED children. Read More

    Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
    Am J Med Genet A 2017 May 28;173(5):1378-1382. Epub 2017 Mar 28.
    Department of Human Genetics, University of Chicago, Chicago, Illinois.
    CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six molecularly confirmed cases of CHIME syndrome have been reported. Here, we report the seventh patient with biallelic PIGL mutations associated with CHIME syndrome and describe the first characterization of an intragenic deletion in PIGL. Read More

    Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
    Am J Med Genet A 2017 May 28;173(5):1186-1189. Epub 2017 Mar 28.
    Department of Medical Genetics, Skeletal Dysplasia Group, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
    Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome or short-rib polydactyly type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis. The most recent classification of the skeletal dysplasias referred to this phenotype as an as-yet unproven ciliopathy. Read More

    A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family.
    Int J Mol Cell Med 2016 23;5(4):260-263. Epub 2016 Oct 23.
    Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here we describe a novel acceptor splice site mutation c. Read More

    Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
    Am J Med Genet A 2017 May 23;173(5):1364-1368. Epub 2017 Mar 23.
    Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
    Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Read More

    Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
    Genet Med 2017 Mar 16. Epub 2017 Mar 16.
    Department of Medical Genetics, Lille University Hospital, CHU Lille, Lille, France.
    Purpose: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown.

    Methods: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. Read More

    Oculoectodermal syndrome: twentieth described case with new manifestations.
    An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):160-162
    Instituto de Medicina Integral Professor Fernando Figueira (IMIP) - Recife (PE), Brazil.
    Oculoectodermal syndrome is a rare disease characterized by the association of aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This report describes the twentieth case of the disease. We report a 4-year-old female child who presented with the classical features of the syndrome: aplasia cutis congenita and epibulbar dermoids. Read More

    Tricho-dento-osseous syndrome and precocious eruption.
    J Clin Exp Dent 2017 Mar 1;9(3):e494-e497. Epub 2017 Mar 1.
    Professor & HOD, Department of Pedodontics and Preventive Dentistry, Dr. R. Ahmed Dental College and Hospital, Kolkata, West Bengal, India.
    Tricho-dento-osseous syndrome (TDO), an uncommon form of ectodermal dysplasia is an autosomal dominant genetic disorder which is characterized by inherited defects in tissues arising from epithelial-mesenchymal interaction. Genetic studies have revealed that it is caused by mutation in the DLX3 gene. TDO presents with a great phenotypic heterogeneity and studies have suggested that this heterogeneity is the result of environmental factors or other genetic modifiers. Read More

    A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.
    Pediatr Dermatol 2017 Mar;34(2):172-175
    Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
    Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c. Read More

    Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.
    Plast Reconstr Surg Glob Open 2016 Dec 22;4(12):e1185. Epub 2016 Dec 22.
    Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka, Japan; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan; and Section of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo, Japan.
    A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Read More

    Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.
    Gen Dent 2017 Mar-Apr;65(2):66-69
    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC. Read More

    Dermoscopic Findings of Scalp Aplasia Cutis Congenita.
    Skin Appendage Disord 2017 Jan 8;2(3-4):177-179. Epub 2016 Dec 8.
    Hair and Scalp Diseases, Outpatient Clinic, Division of Dermatology, Santa Casa de Misericórdia, Porto Alegre, Brazil.
    Aplasia cutis congenita (ACC) is a rare disease characterized by congenital absence of skin, affecting preferentially the scalp. Diagnosis is made clinically; however, recent studies have shown that dermoscopy can be a useful tool for the diagnosis and differentiation from sebaceous nevus. The clinical findings include a shiny atrophic alopecic patch associated with dermoscopic findings of absent follicular openings, thicker vessels and a distinct collar hypertrichosis. Read More

    Almost Unilateral Focal Dermal Hypoplasia.
    Ann Dermatol 2017 Feb 3;29(1):91-94. Epub 2017 Feb 3.
    Department of Dermatology, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, Korea.
    Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Read More

    A case report of reactive solitary eccrine syringofibroadenoma.
    Indian Dermatol Online J 2017 Jan-Feb;8(1):35-38
    Department of Dermatology, Venereology and Leprosy, Rajendra Institute of Medical Sciences, Ranchi, India.
    Eccrine syringofibroadenoma is a very rare benign tumour of acrosyringium of eccrine sweat duct. Based on the evidences of known etiological factors, two forms have been proposed; reactive and nonreactive. Reactive forms are rarer, and on even rarer occasions, trauma complicated by secondary nonspecific infections may lead to the development of reactive eccrine syringofibroadenoma, as in our case. Read More

    Oral Rehabilitation of a Patient With Ectodermal Dysplasia Treated With Fresh-Frozen Bone Allografts and Computer-Guided Implant Placement: A Clinical Case Report.
    J Oral Maxillofac Surg 2017 May 20;75(5):939-954. Epub 2017 Jan 20.
    Clinical Assistant Professor, Implant Center for Edentulism and Jawbone Atrophies, Maxillo-Facial and Odontostomatology Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
    Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Read More

    A case of mosaicism in ectodermal dysplasia - skin fragility syndrome.
    Br J Dermatol 2017 Feb 9. Epub 2017 Feb 9.
    Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.
    Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1), which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case of a 2-year-old girl with unilateral superficial erosions, plantar keratoderma and nail dystrophy, all showing a Blaschko-linear arrangement. Read More

    Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.
    Clin Dysmorphol 2017 Apr;26(2):78-82
    aManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre bDepartment of Burns and Plastic Surgery, Royal Manchester Children's Hospital, Central Manchester NHS Foundation Trust cDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester dDepartment of Paediatrics, Royal Preston Hospital, East Lancashire Teaching Hospitals Trust, Preston, UK.
    The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. Read More

    Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
    Am J Med Genet A 2017 Mar 4;173(3):790-800. Epub 2017 Feb 4.
    University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
    The Adams-Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well characterized. Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. Read More

    Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.
    Dev Med Child Neurol 2017 May 4;59(5):544-549. Epub 2017 Feb 4.
    Division of Neuroscience & Experimental Psychology, Faculty of Biological, Medical & Health Sciences, University of Manchester and Royal Manchester Children's Hospital and Manchester Academic Health Sciences Centre, Manchester, UK.
    Aim: To investigate the cognitive and behavioural phenotype in rare disorders of the Ras/MAPK pathway, namely Noonan, cardiofaciocutaneous (CFC), and Costello syndromes, particularly prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD).

    Method: Fifty children were recruited over 10 months through the regional genetics service and advertisements. A range of parent, child, and observational measures were administered including Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Scale. Read More

    Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.
    Am J Med Genet A 2017 Mar 22;173(3):758-761. Epub 2017 Jan 22.
    GeneDx, Gaithersburg, Maryland.
    We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that UBA2 haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. Read More

    Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia.
    J Dent Res 2017 Feb 11;96(2):217-224. Epub 2016 Oct 11.
    2 Department of Biochemistry, University of Lausanne, Epalinges, Switzerland.
    The tumor necrosis factor (TNF) family ligand ectodysplasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA receptor (EDAR) and X-linked EDA receptor (XEDAR/EDA2R), respectively. Inactivating mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by malformations of the teeth, hair and glands, with milder deficiencies affecting only the teeth. EDA acts early during the development of ectodermal appendages-as early as the embryonic placode stage-and plays a role in adult appendage function. Read More

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