Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts
Open accessAbstract
The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C) and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.
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Individuals have been reported with the 15q11.2 BP1-BP2 microdeletion and additional non-neurological clinical findings including congenital cataracts, proximal esophageal atresia and distal tracheoesophageal fistula (type C), and congenital arthrogryposis.
“Recently, individuals have been reported with the 15q11.2 BP1–BP2 microdeletion and additional non-neurological clinical findings. These findings included congenital cataracts [14,35], proximal esophageal atresia and distal tracheoesophageal fistula (type C) [35] and congenital arthrogryposis [36].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [35]
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References 11 · Cited by 25
Research works printed but not linked: 8
- [1]Burnside RD Pasion R Mikhail FM Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay Human Genetics 2011 130 4 517 528 2-s2.0-80054848222 21359847 PMC6814187
- [2]Chai J-H Locke DP Greally JM Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons American Journal of Human Genetics 2003 73 4 898 925 2-s2.0-0142027581 14508708 PMC1180611
- [5]Abdelmoity AT LePichon JB Nyp SS Soden SE Daniel CA Yu S 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features Journal of Developmental and Behavioral Pediatrics 2012 33 7 570 576 22922608
- [6]Pinheiro PF Simões e Silva AC Pereira RM Current knowledge on esophageal atresia World Journal of Gastroenterology 2012 18 28 3662 3672 22851858 PMC3406418
- [7]Felix JF De Jong EM Torfs CP De Klein A Rottier RJ Tibboel D Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts Birth Defects Research Part A 2009 85 9 747 754 2-s2.0-70349190358 19452513
- [8]Chan WH Biswas S Ashworth JL Lloyd C Educational paper: congenital and infantile cataract: aetiology and management European Journal of Pediatrics 2012 171 4 625 630 2-s2.0-84860271805 22383071
- [9]Yi J Yun J Li ZK Xu CT Pan BR Epidemiology and molecular genetics of congenital cataracts International Journal of Opthalmology 2011 4 4 422 432 PMC3340856 22553694
- [10]Vukcevich WM Adler RI Horxblass AH Gombos GM Cataracts with obesity, small stature, oligophrenia, and acromicria (Prader-Labhart-Willi syndrome) American Journal of Ophthalmology 1973 75 2 258 260 2-s2.0-0015580360 4266783
- Authors
- Wong, D., Johnson, S. M., Young, D., Iwamoto, L., Sood, S., & Slavin, T. P.
- Affiliations
- University of Hawaiʻi at Mānoa (US)
- Corresponding author
- Wong, D.
- Venue
- Case Reports in Genetics
- Publisher
- Wiley
- Published
- 2013
- Volume
- 2013
- Pages
- 1-3
- ISSN
- 2090-6544 (ISSN-L)
- 2090-6552
- PMC
- PMC3707229
- OpenAlex
- W2041187846
- Cited by
- 25
- References
- 11
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 2 · 2021: 3 · 2020: 2 · 2019: 2 · 2018: 1 · 2017: 1 · 2016: 3 · 2015: 6 · 2014: 2
- FWCI
- 2.43
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Case Reports in Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- tracheoesophageal fistula, esophageal atresia, congenital cataract, Prader-Willi syndrome, Angelman syndrome, phenotypic spectrum, developmental delay, motor apraxia
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