0000000000312000

AUTHOR

Mohnish Suri

showing 2 related works from this author

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

1999

SummaryCleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. …

Core binding factorRecombinant Fusion ProteinsDNA Mutational AnalysisGreen Fluorescent ProteinsMolecular Sequence DataMutation MissenseHuman malformation syndromeCore Binding Factor Alpha 1 SubunitBiologyTransfectionmedicine.disease_causeBone and BonesCleidocranial dysplasiaCell LineFrameshift mutationCBFA1GeneticsmedicineHumansMissense mutationGenetics(clinical)SupernumeraryFrameshift MutationGenetics (clinical)Sequence DeletionGeneticsMutationPolymorphism GeneticCleidocranial DysplasiaCore Binding FactorsArticlesmedicine.diseaseOsteochondrodysplasiaNeoplasm ProteinsRadiographyNuclear localizationLuminescent ProteinsPhenotypeMicroscopy FluorescenceMutation testingTranscription factorHaploinsufficiencyToothTranscription FactorsThe American Journal of Human Genetics
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2021

AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splic…

business.industryPostnatal microcephalyMicrodeletion syndromemedicine.diseaseBioinformaticsHypotoniaDevelopmental disorderAutism spectrum disorderIntellectual disabilityFetal hemoglobinmedicineMissense mutationmedicine.symptombusiness
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