Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Sign Up to like & getrecommendations! Published in 2018 at "Birth defects research"
DOI: 10.1002/bdr2.1191
Abstract: BACKGROUND Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene. CASE… read more here.
Keywords: hypoplasia type; case; bainbridge ropers; ropers syndrome ... See more keywords
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2018.01.014
Abstract: Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. Affected individuals have multiple abnormalities including developmental impairment, hypotonia and characteristic facial features.… read more here.
Keywords: onset generalized; bainbridge ropers; generalized epilepsy; ropers syndrome ... See more keywords
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a002410
Abstract: Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy… read more here.
Keywords: bainbridge ropers; nonsense mutation; ropers syndrome; mutation asxl3 ... See more keywords
A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management
Sign Up to like & getrecommendations! Published in 2022 at "BMC Neurology"
DOI: 10.1186/s12883-022-02573-w
Abstract: Background Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements… read more here.
Keywords: breath holding; bainbridge ropers; holding spells; case ... See more keywords
Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000189
Abstract: The protein product of the Drosophila additional sex combs-like (Asx) gene was shown to be a regulator, both a suppressor and an activator, of Hox developmental genes. Mammals, including humans, possess 3 Asx orthologs: 2… read more here.
Keywords: bainbridge ropers; athetosis asxl3; deficiency bainbridge; ropers syndrome ... See more keywords