Bainbridge–Ropers syndrome was first identified in 2013 and is characterized by failure to thrive, feeding problems, hypotonia, intellectual disabilities, autism, postnatal growth delay, abnormal facial features such as arched eyebrows, anteverted nares, and delays in language acquisition. BRPS is extremely rare worldwide; more than thirty cases of BRPS have been reported abroad, and four cases have been reported in China.[1]
| Bainbridge–Ropers syndrome | |
|---|---|
| Other names | BRPS, ASXL3-Related Disorder, ASXL3 syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome. |
 | |
| Bainbridge-Ropers syndrome is inherited in an autosomal dominant manner. | |
| Specialty | Medical genetics |
| Symptoms | Failure to thrive, feeding problems, hypotonia, Intellectual disability, Autism spectrum, postnatal growth delay, abnormal facial features such as arched eyebrows, anteverted nares, and Speech delay. |
| Causes | Genetic mutation. |
Signs and symptoms edit
Morphological features of this syndrome include:[2]
- Arched eyebrows
- Anteverted nares
- Ulnar deviation of the hands
- Microcephaly
- Skeletal abnormalities, such as a "barrel chest", extremely high arched palate
- Crowded teeth
- Hypertelorism (wide-set eyes)
- Scoliosis
Genetics edit
This condition is caused by a mutation in the ASXL3 gene, which is considered a de novo mutation.[3]
Genetic changes that are described as de novo (new) mutations can be either hereditary or somatic. In some cases, the mutation occurs in a person's egg or sperm cell but is not present in any of the person's other cells. In other cases, the mutation occurs in the fertilized egg shortly after the egg and sperm cells unite. (It is often impossible to tell exactly when a de novo mutation happened.) As the fertilized egg divides, each resulting cell in the growing embryo will have the mutation. De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell in the body but the parents do not, and there is no family history of the disorder.[4]
This condition is inheritable.[5]
Mutations in the Additional Sex Combs Like 3 (ASXL3) gene on the long arm of chromosome 18 (18q12.1) have been associated with this condition.[3]
Diagnosis edit
The identification of a heterozygous pathogenic variant in ASXL3 by molecular genetic testing establishes the diagnosis of Bainbridge–Ropers syndrome.[6]
Differential diagnosis edit
Treatment edit
The majority of management is symptomatic and involves feeding therapy, the implantation of a gastrostomy tube for individuals with persistent feeding problems, anti-reflux medication and/or fundoplication for patients with gastroesophageal disease, standard treatment for joint contractures, epilepsy, sleep apnea, dental anomalies, strabismus and/or refractive error, and intellectual disability.[6]
History edit
This condition was first described by Bainbridge et al in 2013.[3]
References edit
- ^ Yang, Linfeng; Guo, Bin; Zhu, Weiwei; Wang, Lei; Han, Bingjuan; Che, Yena; Guo, Lingfei (June 9, 2020). "Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report". BMC Pediatrics. 20 (1). Springer Science and Business Media LLC: 287. doi:10.1186/s12887-020-02027-7. ISSN 1471-2431. PMC 7282141. PMID 32517662.
- ^ Yu, Kris Pui-Tak; Luk, Ho-Ming; Fung, Jasmine L.F.; Chung, Brian Hon-Yin; Lo, Ivan Fai-Man (January 2021). "Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions". European Journal of Medical Genetics. 64 (1): 104107. doi:10.1016/j.ejmg.2020.104107. PMID 33242595. S2CID 227181556.
- ^ a b c d Bainbridge, Matthew N; Hu, Hao; Muzny, Donna M; Musante, Luciana; Lupski, James R; Graham, Brett H; Chen, Wei; Gripp, Karen W; Jenny, Kim; Wienker, Thomas F; Yang, Yaping; Sutton, V Reid; Gibbs, Richard A; Ropers, H Hilger (2013). "De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome". Genome Medicine. 5 (2): 11. doi:10.1186/gm415. ISSN 1756-994X. PMC 3707024. PMID 23383720.
- ^ "What is a gene mutation and how do mutations occur?". Genetics Home Reference. US National Library of Medicine. Retrieved 7 December 2019.
This article incorporates text from this source, which is in the public domain.
- ^ Schirwani, Schaida; Woods, Emily; Koolen, David A.; Ockeloen, Charlotte W.; Lynch, Sally Ann; Kavanagh, Karl; Graham, John M.; Grand, Katheryn; Pierson, Tyler Mark; Chung, Jeffrey M.; Balasubramanian, Meena (January 2023). "Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype". American Journal of Medical Genetics Part A. 191 (1): 29–36. doi:10.1002/ajmg.a.62981. ISSN 1552-4825. PMC 10087684. PMID 36177608. S2CID 252623193.
- ^ a b Balasubramanian, Meena; Schirwani, Schaida (November 5, 2020). "ASXL3-Related Disorder". University of Washington, Seattle. PMID 33151654. Retrieved November 11, 2023.
Further reading edit
- Lichtig, Hava; Artamonov, Artyom; Polevoy, Hanna; Reid, Christine D.; Bielas, Stephanie L.; Frank, Dale (February 18, 2020). "Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos". Frontiers in Physiology. 11. Frontiers Media SA: 75. doi:10.3389/fphys.2020.00075. ISSN 1664-042X. PMC 7040374. PMID 32132929.
- Balasubramanian, M; Willoughby, J; Fry, A E; Weber, A; Firth, H V; Deshpande, C; Berg, J N; Chandler, K; Metcalfe, K A; Lam, W; Pilz, D T; Tomkins, S (January 18, 2017). "Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients withde novo, heterozygous, loss-of-function mutations inASXL3and review of published literature" (PDF). Journal of Medical Genetics. 54 (8). BMJ: 537–543. doi:10.1136/jmedgenet-2016-104360. ISSN 0022-2593. PMID 28100473. S2CID 263737600. Retrieved November 11, 2023.