Search results for "Ablepharon"

showing 3 items of 3 documents

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

2017

Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the <i>TWIST2</i> gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adul…

0301 basic medicineQuality of lifemedicine.medical_specialtyAblepharon-macrostomia syndrome · Barber-Say syndrome · Body satisfaction · Patient perception · Psychosocial functioning · Quality of life · Questionnaire studymedia_common.quotation_subjectBody satisfaction030105 genetics & heredityHuman physical appearanceBARBER-SAY SYNDROMEPsychosocial functioning03 medical and health sciencesAblepharon macrostomia syndromeQuality of lifePhysical functioningPerceptionMedicine and Health SciencesmedicineGeneticsAblepharon-macrostomia syndrome; Barber-Say syndrome; Body satisfaction; Patient perception; Psychosocial functioning; Quality of life; Questionnaire study; Genetics; Genetics (clinical)Ablepharon-macrostomia syndromePatient perceptionPsychiatryGenetics (clinical)media_commonbusiness.industrymedicine.diseaseBody satisfactionQuestionnaire studyBarber-Say syndromeOriginal ArticlebusinessPsychosocialFACIAL DISFIGUREMENT
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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

2015

Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…

Models MolecularCandidate geneHirsutismProtein ConformationHeLa Cellmedicine.disease_causeTranscriptomeTwist transcription factorModelsGenetics(clinical)ExomeEye AbnormalitiesNon-U.S. Gov'tExomeGenetics (clinical)ZebrafishGeneticsMutationMicroscopyMacrostomiaSetleis syndromeHypertelorismResearch Support Non-U.S. Gov'tHypertrichosiEyelid DiseaseGENÉTICAPhenotypeEyelid DiseasesAbnormalitiesMultipleSequence AnalysisHumanChromatin ImmunoprecipitationMolecular Sequence DataMutation MissenseHypertrichosisAbnormalities; Multiple; Amino Acid Sequence; Animals; Base Sequence; Chromatin Immunoprecipitation; Exome; Eye Abnormalities; Eyelid Diseases; HeLa Cells; Hirsutism; Humans; Hypertelorism; Hypertrichosis; Macrostomia; Microscopy; Electron; Molecular Sequence Data; Mutation; Missense; Protein Conformation; Repressor Proteins; Sequence Analysis; DNA; Skin Abnormalities; Twist Transcription Factor; Zebrafish; Models; Molecular; Phenotype; Genetics; Genetics (clinical)Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0]BiologyResearch SupportElectronArticleFrameshift mutationGeneticAblepharon macrostomia syndromeSkin AbnormalitieGeneticsmedicineJournal ArticleAnimalsHumansAbnormalities MultipleAmino Acid SequenceNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Base SequenceAnimalTwist-Related Protein 1MolecularSequence Analysis DNADNARepressor Proteinmedicine.diseaseRepressor ProteinsTwist Transcription FactorEye AbnormalitieMicroscopy ElectronMutationSkin Abnormalitiessense organsMissenseNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]HeLa CellsAmerican journal of human genetics
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Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

2009

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …

medicine.medical_specialtyHypertrichosisSkin DiseasesConductive hearing impairmentDiagnosis DifferentialAblepharonAblepharon macrostomia syndromeGeneticsmedicineHumansAbnormalities MultipleChildGenetics (clinical)Macrostomiabiologybusiness.industryEctropionEyelidsGeneralized hypertrichosisSyndromemedicine.diseaseMicroblepharonbiology.organism_classificationDermatologyAbnormal external genitaliaMacrostomiaFemalesense organsbusinessAmerican journal of medical genetics. Part A
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