[CITATION][C] NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

H Al‐Kateb, JS Shimony, M Vineyard… - American Journal of …, 2013 - Wiley Online Library
H Al‐Kateb, JS Shimony, M Vineyard, L Manwaring, S Kulkarni, M Shinawi
American Journal of Medical Genetics Part A, 2013Wiley Online Library
The precise mapping of chromosomal microdeletion breakpoints by chromosomal
microarray analysis provides the opportunity of more accurate genotype–phenotype
correlation. Identification of a disease causing gene (s) becomes then possible, especially
when the deleted region contains a limited number of genes. Herein, we describe an 8-year
and 3-month-old male who was initially evaluated for developmental delay and dysmorphic
features. He was born via spontaneous vaginal delivery at 36 weeks of gestation to a 20 …
The precise mapping of chromosomal microdeletion breakpoints by chromosomal microarray analysis provides the opportunity of more accurate genotype–phenotype correlation. Identification of a disease causing gene (s) becomes then possible, especially when the deleted region contains a limited number of genes. Herein, we describe an 8-year and 3-month-old male who was initially evaluated for developmental delay and dysmorphic features. He was born via spontaneous vaginal delivery at 36 weeks of gestation to a 20-year-old G2P1-2, healthy mother and a 22-yearold healthy father; both are of Caucasian descent. The patient’s birth weight was 3.8 kg (þ4 SD) and his birth length was 54.6 cm (þ3 SD). The prenatal history was significant for gestational diabetes but there were no perinatal complications. The parents had a 6-year-old daughter and a 9-year-old son who both were healthy.
During the first few months of life, the patient had feeding difficulties, gastroesophageal reflux and hypotonia. A gastrostomy tube was placed between 2 and 7 months of age. The patient had left ureteropelvic obstruction, which required pyeloplasty at 6 months of age. At the age of 2 years, he had left small-angle esotropia and amblyopia. Later on, he was diagnosed with bilateral optic atrophy associated with visual motor integration deficit and visual perceptual disorder. He underwent a repair of strabismus on left eye. His audiological evaluation has revealed mild conductive hearing loss. The proband exhibited global developmental delay. He started walking at the age of 3 and forming single words at 4 years of age. Later on, he continued to have abnormal gait and clumsy walking. He had severe fine motor skill abnormalities with special difficulty in handwriting, which led to the diagnosis of graphomotor dysfunction. He had learning difficulties and was diagnosed with attention deficit hyperactivity disorder. He received physical, occupational, speech, and vision therapies.
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