Results 1 to 10 of about 206 (103)

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background The Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS) is an autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or hypoplasia, mild intellectual disability, hypotonia, seizures/infantile epilepsy.
Catia Mio, Federico Fogolari, Laura Pezzoli, Angela V. D’Elia, Maria Iascone, Giuseppe Damante   +5 more
doaj   +5 more sources

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians.
Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel   +7 more
doaj   +5 more sources

Second Prenatal Diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature [PDF]

Clinical Case Reports
This case demonstrates the value of cell‐free DNA (cfDNA) screening for detecting subchromosomal microdeletions in fetuses with non‐specific prenatal screening abnormalities and no overt structural malformations on ultrasound; CMA and karyotyping ...
Ying Hao, Qingfa Huang, Yong Xu, Xingping Li, Peining Li, Weiqing Wu, Bo Wu, Wenlan Liu   +7 more
doaj   +3 more sources

A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome [PDF]

Hereditas
Introduction Nuclear receptor subfamily 2, group F, member 1 (NR2F1) gene variations are associated with Bosch–Boonstra–Schaaf optic atrophy syndrome.
Juan Liu, Jihong Hu, Pingqiu Zhou, Yaqin Duan, Shuigui Yin   +4 more
doaj   +3 more sources

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome [PDF]

Indian Journal of Ophthalmology, 2022
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy.
Ayca Kocaaga, Sevgi Yimenicioglu, Haluk Hüseyin Gürsoy   +2 more
doaj   +2 more sources

Language and Cognitive Features in a Girl with Bosch–Boonstra–Schaaf Optic Atrophy Syndrome [PDF]

Pediatric Reports
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare neurological condition caused by a disruption in the NR2F-1 gene. The most common clinical features are optic atrophy and intellectual and developmental delay.
Ivana Bogavac, Ljiljana Jeličić, Maša Marisavljević, Milica Ćirović, Jelena Ðorđević, Ivan Krgović, Miško Subotić   +6 more
doaj   +2 more sources

The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. [PDF]

Clin Genet
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Valentin I, Caro P, Fischer C, Brennenstuhl H, Schaaf CP.   +4 more
europepmc   +2 more sources

Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch–Boonstra–Schaaf optic atrophy syndrome in a Chinese patient [PDF]

Frontiers in Medicine
PurposeThis study aimed to report the clinical characteristics, genetic findings, and treatment outcomes of a Chinese patient with Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) caused by a mutation in the NR2F1 gene.MethodA retrospective chart ...
Shuyu Tang, Tingshuai Jiang, Wenqi Su, Binqi Tang, Daoman Xiang, Jie Zhu   +5 more
doaj   +2 more sources

The NR2F1-Related 5q14.3–q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype–phenotype analysis [PDF]

Frontiers in Genetics
Large interstitial deletions spanning chromosome 5q14.3 to q21.1 and encompassing NR2F1 are rare. Existing descriptions have largely focused on structural features and presenting manifestations, with fewer reports examining functional neurodevelopmental ...
Helen St Clair Tracy, Gordon N. Dutton, Hildegard Nikki Hall, Andrew Blaikie, Andrew Blaikie   +4 more
doaj   +2 more sources

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers. [PDF]

J Child Psychol Psychiatry
Background Our aim was to update an existing model of communication ability for children with rare neurodevelopmental disorders (NDDs) by centring caregiver and family perspectives. This project is part of a larger initiative to improve the measurement of communication ability for these children in the context of clinical trials.
Zigler CK, McFatrich M, Lucas N, Plyler K, Zapata-Leiva L, Gordon K, Jones HN, Lin L, Kern J, Radar A, Chen D, Bergelson E, Still K, Hinger B, Delagrammatikas CG, Poliquin S, Short BP, Marfia-Ash L, Stephens K, Oyler HO, Graglia JM, Worth K, Son Rigby C, Goss JR, Bigelow B, Bliss G, Beatty K, Schust Myers L, Thelen M, Summerfield N, Bichell TJ, Reeve BB.   +31 more
europepmc   +2 more sources