0000000000481530

AUTHOR

Yves Sznajer

showing 2 related works from this author

Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases

2015

International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris…

MaleMicrocephalyPathologyCraniofacial abnormality[SDV]Life Sciences [q-bio]MedizinGYRAL MALFORMATIONSCraniofacial AbnormalitiesFUNCTIONAL DIVERSITY0302 clinical medicinePtosisGene OrderGenetics(clinical)HypertelorismNon-U.S. Gov'tChildGenetics (clinical)ArthrogryposisDystonia0303 health sciencesResearch Support Non-U.S. Gov'tAnatomy3. Good healthPhenotypeChild PreschoolFemalemedicine.symptomAbnormalitiesMultipleRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adultmedicine.medical_specialtyAPPARENTLY UNDESCRIBED SYNDROMEAdolescentLissencephalyBiologyResearch SupportArticle03 medical and health sciencesYoung AdultSDG 3 - Good Health and Well-beingmedicineGeneticsJournal ArticleHumansAbnormalities MultiplePreschool030304 developmental biologySHALLOW ORBITSNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]GAMMA-ACTINPachygyriaFaciesmedicine.diseaseIRIS COLOBOMAActinsBETA-ACTINAbnormalities Multiple; Actins; Adolescent; Adult; Amino Acid Substitution; Child; Child Preschool; Craniofacial Abnormalities; Facies; Female; Gene Order; Genetic Loci; Humans; Male; Mutation; Phenotype; Young AdultAmino Acid SubstitutionGenetic LociFACIAL SYNDROMEMutation030217 neurology & neurosurgeryMENTAL-RETARDATIONGROWTH-RETARDATION
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Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

2014

Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a…

Geneticsmedicine.medical_specialtybusiness.industryPoikilodermaConsanguinityBaller–Gerold syndromemedicine.diseaseDermatology3. Good healthHereditary sclerosing poikilodermaGenotypeGeneticsmedicinebusinessRothmund–Thomson syndromeGenetics (clinical)Comparative genomic hybridizationPorokeratosisClinical Genetics
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