Waardenburg syndrome
| Subclass of | genetic deafness, autosomal dominant disease, syndrome  |
|---|---|
| Dem name after | Petrus Johannes Waardenburg |
| Health specialty | medical genetics |
| Genetic association | EDNRB, PAX3 |
| Comorbidity | premature greying of hair |
Waardenburg syndrome be a group of rare genetic conditions wey be characterised by at least sam degree of congenital hearing loss den pigmentation deficiencies, wich fi include bright blue eyes (anaa one blue eye den one brown eye), a white forelock anaa patches of light skin. Dese basic features constitute type 2 of de condition; insyd type 1, der sanso be a wider gap between de inner corners of de eyes dem call telecanthus, anaa dystopia canthorum.[1] Insyd type 3, wich be rare, de arms den hands sanso be malformed, plus permanent finger contractures anaa fused fingers, while insyd type 4, de person sanso get Hirschsprung's disease.[2][3] Der sanso exist at least two types (2E den PCWH) wey fi result in central nervous system (CNS) symptoms such as developmental delay den muscle tone abnormalities.[4]
De syndrome be caused by mutations insyd any of several genes wey affect de division den migration of neural crest cells during embryonic development (though sam of de genes involve sanso affect de neural tube).[5] Neural crest cells be stem cells dem lef over after de closure of de neural tube wey dey go on to form diverse non-CNS cells insyd different parts of de body, wey dey include melanocytes, various facial den inner ear bones den cartilage, den de peripheral nerves of de intestines.[6]
Type 1 be caused by a mutation insyd de PAX3 gene, while de gene wey most often dey cause type 2 wen mutated be MITF.[1][7] Type 3 be a more severe presentation of type 1 wey e be caused by a mutation insyd de same gene, while type 4 most often be caused by a mutation insyd SOX10.[2][8] Mutations insyd oda genes sanso fi cause de different types, den sam of dese be given dema own lettered subtypes. Most types be autosomal dominant.
De estimated prevalence of Waardenburg syndrome be 1 insyd 42,000.[5][8] Types 1 den 2 be de most common, wey dey comprise approximately half den a third of cases, respectively, while type 4 dey comprise a fifth den type 3 less dan 2% of cases.[8] An estimated 2–5% of congenitally deaf people get Waardenburg syndrome.[8] Descriptions of de syndrome dey date back to at least de first half of de 20th century, however e be named after Dutch ophthalmologist den geneticist Petrus Johannes Waardenburg, wey describe am insyd 1951.[9][10] Ein subtypes be progressively discovered insyd de following decades wey e get genes dem attributed to dem mostly insyd de 1990s den 2000s.
Cause
[edit | edit source]Classification table
[edit | edit source]| Type | OMIM | Gene | Locus | Inheritance |
|---|---|---|---|---|
| Type 1 (WS1) | 193500 | PAX3 | 2q36.1[11] | Autosomal dominant |
| Type 2A (WS2A, originally WS2) | 193510 | MITF | 3p14.1–p12.3 | Autosomal dominant |
| Type 2B (WS2B) | 600193 | WS2B | 1p21–p13.3 | Autosomal dominant |
| Type 2C (WS2C) | 606662 | WS2C | 8p23 | Autosomal dominant |
| Type 2D (WS2D) | 608890 | SNAI2 | 8q11 | Autosomal recessive |
| Type 2E (WS2E) | 611584 | SOX10 | 22q13.1 | Autosomal dominant |
| Type 3 (WS3) | 148820 | PAX3 | 2q36.1 | Autosomal dominant anaa autosomal recessive |
| Type 4A (WS4A) | 277580 | EDNRB | 13q22 | Autosomal dominant anaa autosomal recessive |
| Type 4B (WS4B) | 613265 | EDN3 | 20q13 | Autosomal dominant anaa autosomal recessive |
| Type 4C (WS4C) | 613266 | SOX10 | 22q13.1 | Autosomal dominant |
References
[edit | edit source]- 1 2 "OMIM Entry - # 193500 - WAARDENBURG SYNDROME, TYPE 1; WS1". omim.org. Retrieved 2019-12-07.
- 1 2 "OMIM Entry - # 148820 - WAARDENBURG SYNDROME, TYPE 3; WS3". omim.org. Retrieved 2019-12-07.
- ↑ "OMIM Entry - # 277580 - WAARDENBURG SYNDROME, TYPE 4A; WS4A". omim.org. Retrieved 2019-12-07.
- ↑ "OMIM Entry - # 611584 - WAARDENBURG SYNDROME, TYPE 2E; WS2E". omim.org. Retrieved 2019-12-07.
- 1 2 Pingault, Véronique; Ente, Dorothée; Moal, Florence Dastot-Le; Goossens, Michel; Marlin, Sandrine; Bondurand, Nadège (2010). "Review and update of mutations causing Waardenburg syndrome". Human Mutation (in English). 31 (4): 391–406. doi:10.1002/humu.21211. ISSN 1098-1004. PMID 20127975. S2CID 12278025.
- ↑ "Neural Crest Development - Embryology". embryology.med.unsw.edu.au. Retrieved 2019-12-13.
- ↑ "OMIM Entry - # 193510 - WAARDENBURG SYNDROME, TYPE 2A; WS2A". omim.org. Retrieved 2019-12-07.
- 1 2 3 4 Song, J.; Feng, Y.; Acke, F. R.; Coucke, P.; Vleminckx, K.; Dhooge, I. J. (2016). "Hearing loss in Waardenburg syndrome: a systematic review". Clinical Genetics (in English). 89 (4): 416–425. doi:10.1111/cge.12631. ISSN 1399-0004. PMID 26100139. S2CID 23834634.
- ↑ Chandra Mohan, Setty. L. N. (2018-09-01). "Case of Waardenburg Shah syndrome in a family with review of literature". Journal of Otology. 13 (3): 105–110. doi:10.1016/j.joto.2018.05.005. ISSN 1672-2930. PMC 6291636. PMID 30559775.
- ↑ Waardenburg PJ (September 1951). "A New Syndrome Combining Developmental Anomalies of the Eyelids, Eyebrows and Noseroot with Pigmentary Anomalies of the Iris and Head Hair and with Congenital Deafness; Dystopia canthi medialis et punctorum lacrimalium lateroversa, Hyperplasia supercilii medialis et radicis nasi, Heterochromia iridum totalis sive partialis, Albinismus circumscriptus (leucismus, poliosis) et Surditas congenita (surdimutitas)". Am. J. Hum. Genet. 3 (3): 195–253. PMC 1716407. PMID 14902764.
- ↑ Tsukamoto K, Nakamura Y, Niikawa N (March 1994). "Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues". Hum. Genet. 93 (3): 270–4. doi:10.1007/bf00212021. PMID 7545913. S2CID 36749688.
External links
[edit | edit source]
- GeneReviews/NCBI/NIH/UW entry on Waardenburg Syndrome Type I
- OMIM Genetic disorder catalog — Waardenburg syndrome
- Yose Mirza, Waardenburg in West Sumatra, Indonesia, 2015 - a webpage within the Atlas of Humanity website, having photos of several Waardenburg syndrome people with various eye pigmentations.
