Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation
AIM: To reveal a novel MITF gene mutation in Waardenburg syndrome (WS), which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes, hair and skin. METHODS: The genetic analysis of the Chinese famil...
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| Format: | Article |
| Language: | English |
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Press of International Journal of Ophthalmology (IJO PRESS)
2020-07-01
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| Series: | International Journal of Ophthalmology |
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| Online Access: | http://ies.ijo.cn/en_publish/2020/7/20200706.pdf |
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| author | Xia-Jing Tang Xi-Yuan Ping Chen-Qi Luo Xiao-Ning Yu Ye-Lei Tang Xing-Chao Shentu |
| author_facet | Xia-Jing Tang Xi-Yuan Ping Chen-Qi Luo Xiao-Ning Yu Ye-Lei Tang Xing-Chao Shentu |
| author_sort | Xia-Jing Tang |
| collection | DOAJ |
| description | AIM: To reveal a novel MITF gene mutation in Waardenburg syndrome (WS), which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes, hair and skin.
METHODS: The genetic analysis of the Chinese family was conducted by whole-exome sequencing, then the results were confirmed by Sanger sequencing.
RESULTS: WS is classified into type I to IV, which are identified by the W index, clinical characteristics and additional features. The MITF gene mostly accounts for WS type II. In this study, a de novo heterozygous mutation in the MITF gene, c.638A>G in exon 7, was identified in the patient diagnosed with WS type I features, as the W index was 2.17 (over 2.10), with dystrophia canthorum, congenital bilateral profound hearing loss, bilateral heterochromia irides, premature greying of the hair, and excessive freckling on the face at birth. She also underwent refractive errors and esotropia, reduced pigmentation of the choroid and visible choroid vessels. The mutation was not found in previous studies or mutation databases.
CONCLUSION: The novel mutation in the MITF gene, which altered the protein in amino acids 213 from the glutamic acid to glycine, is the genetic pathological cause for WS features in the patient. Those characteristics of this family revealed a novel genetic heterogeneity of MITF in WS, which expanded the database of MITF mutations and offered a possible in correcting the W index value of WS in distinct ethnicities. Moreover, ocular symptoms should be emphasized in all types of WS patients. |
| first_indexed | 2024-12-12T02:00:15Z |
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| id | doaj.art-aa02e0cc8ed240c2a9066d8162abaaa5 |
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| issn | 2222-3959 2227-4898 |
| language | English |
| last_indexed | 2024-12-12T02:00:15Z |
| publishDate | 2020-07-01 |
| publisher | Press of International Journal of Ophthalmology (IJO PRESS) |
| record_format | Article |
| series | International Journal of Ophthalmology |
| spelling | doaj.art-aa02e0cc8ed240c2a9066d8162abaaa52022-12-22T00:42:11ZengPress of International Journal of Ophthalmology (IJO PRESS)International Journal of Ophthalmology2222-39592227-48982020-07-011371054105910.18240/ijo.2020.07.06Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutationXia-Jing Tang0Xi-Yuan Ping1Chen-Qi Luo2Xiao-Ning Yu3Ye-Lei Tang4Xing-Chao Shentu5Eye Center of the Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou 310009, Zhejiang Province, ChinaEye Center of the Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou 310009, Zhejiang Province, ChinaEye Center of the Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou 310009, Zhejiang Province, ChinaEye Center of the Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou 310009, Zhejiang Province, ChinaThe Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou 310009, Zhejiang Province, ChinaEye Center of the Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou 310009, Zhejiang Province, ChinaAIM: To reveal a novel MITF gene mutation in Waardenburg syndrome (WS), which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes, hair and skin. METHODS: The genetic analysis of the Chinese family was conducted by whole-exome sequencing, then the results were confirmed by Sanger sequencing. RESULTS: WS is classified into type I to IV, which are identified by the W index, clinical characteristics and additional features. The MITF gene mostly accounts for WS type II. In this study, a de novo heterozygous mutation in the MITF gene, c.638A>G in exon 7, was identified in the patient diagnosed with WS type I features, as the W index was 2.17 (over 2.10), with dystrophia canthorum, congenital bilateral profound hearing loss, bilateral heterochromia irides, premature greying of the hair, and excessive freckling on the face at birth. She also underwent refractive errors and esotropia, reduced pigmentation of the choroid and visible choroid vessels. The mutation was not found in previous studies or mutation databases. CONCLUSION: The novel mutation in the MITF gene, which altered the protein in amino acids 213 from the glutamic acid to glycine, is the genetic pathological cause for WS features in the patient. Those characteristics of this family revealed a novel genetic heterogeneity of MITF in WS, which expanded the database of MITF mutations and offered a possible in correcting the W index value of WS in distinct ethnicities. Moreover, ocular symptoms should be emphasized in all types of WS patients.http://ies.ijo.cn/en_publish/2020/7/20200706.pdfwaardenburg syndromegene mitfdystrophia canthorumwhole-exome sequencing |
| spellingShingle | Xia-Jing Tang Xi-Yuan Ping Chen-Qi Luo Xiao-Ning Yu Ye-Lei Tang Xing-Chao Shentu Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation International Journal of Ophthalmology waardenburg syndrome gene mitf dystrophia canthorum whole-exome sequencing |
| title | Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation |
| title_full | Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation |
| title_fullStr | Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation |
| title_full_unstemmed | Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation |
| title_short | Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation |
| title_sort | dystrophia canthorum in waardenburg syndrome with a novel mitf mutation |
| topic | waardenburg syndrome gene mitf dystrophia canthorum whole-exome sequencing |
| url | http://ies.ijo.cn/en_publish/2020/7/20200706.pdf |
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