Subject(s)
Brain Edema/diagnostic imaging , Brain Edema/genetics , Cerebellum/diagnostic imaging , Leigh Disease/diagnostic imaging , Leigh Disease/genetics , Optic Atrophies, Hereditary/diagnostic imaging , Optic Atrophies, Hereditary/genetics , Brain Edema/etiology , Fatal Outcome , Female , Humans , Leigh Disease/complications , Optic Atrophies, Hereditary/complications , Young AdultABSTRACT
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been described as an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common characteristics include developmental delay, intellectual disability, optic nerve atrophy, hypotonia, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity and thinning of the corpus callosum. Missense mutations in NR2F1 have been reported to be the major cause of BBSOAS. A possible genotype-phenotype correlation has been considered with missense mutations affecting the ligand-binding domain of NR2F1 as well as whole-gene deletions of NR2F1 showing a milder phenotype of BBSOAS. Here we report on a patient with a novel frameshift mutation in NR2F1 showing the full spectrum of BBOAS indicating an expanded clinical spectrum and a reconsideration of the observed genotype-phenotype correlation.
Subject(s)
Autism Spectrum Disorder/genetics , COUP Transcription Factor I/genetics , Intellectual Disability/genetics , Optic Atrophies, Hereditary/genetics , Autism Spectrum Disorder/diagnostic imaging , Autism Spectrum Disorder/physiopathology , Base Sequence , Child , Frameshift Mutation , Genetic Association Studies , Humans , Intellectual Disability/diagnostic imaging , Magnetic Resonance Imaging , Male , Muscle Hypotonia/genetics , Mutation, Missense , Optic Atrophies, Hereditary/diagnostic imaging , Optic Atrophies, Hereditary/physiopathology , Phenotype , Point Mutation , Seizures/geneticsSubject(s)
Calmodulin-Binding Proteins/genetics , Ciliopathies/genetics , Kidney Diseases, Cystic/genetics , Leber Congenital Amaurosis/genetics , Mutation/genetics , Optic Atrophies, Hereditary/genetics , Base Sequence , Ciliopathies/diagnostic imaging , Female , Humans , Kidney/diagnostic imaging , Kidney Diseases, Cystic/diagnostic imaging , Leber Congenital Amaurosis/diagnostic imaging , Optic Atrophies, Hereditary/diagnostic imaging , Taiwan , Young AdultSubject(s)
Abnormalities, Multiple/diagnosis , Brain/pathology , Septo-Optic Dysplasia/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Brain/diagnostic imaging , Humans , Infant , Magnetic Resonance Imaging , Male , Optic Atrophies, Hereditary/diagnostic imaging , Optic Atrophies, Hereditary/pathology , Radiography , Septo-Optic Dysplasia/genetics , Septo-Optic Dysplasia/pathology , Septum Pellucidum/diagnostic imaging , Septum Pellucidum/pathologyABSTRACT
We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital optic atrophy in four generations. The inheritance pattern of this complex anomaly appeared to be autosomal dominant.
