Abstract
Introduction: Usher syndrome (USH) is the most common cause of hereditary deaf-blindness. Three clinical subtypes have been classified. USH type I is the most severe subtype characterized by congenital severe-to-profound hearing loss, retinitis pigmentosa and vestibular dysfunction. Methods: One family was analyzed and the analysis included the combination of a custom capture/next-generation sequencing panel of 180 known deafness gene, Sanger sequencing and bioinformatics approaches. Results: Compound heterozygous mutations in the MYO7A gene: a known missense mutation c.494C > T (p.Thr165Met) and a novel missense mutation c.6113G > A (p.Gly2038Glu) were identified in a proband. This Chinese hearing-impaired child was misdiagnosed as non-syndromic hearing loss which was later changed to the diagnosis of USH type I after comprehensive audiometric, vestibular and ophthalmological examinations at 9 years old. Conclusions: Due to the features of genetic heterogeneity and variation in clinical manifestation, molecular diagnosis and ophthalmological examinations by skilled ophthalmologists with knowledge of USH should be suggested as a routine assessment which may improve the accuracy and reliability of etiological diagnosis for hearing loss.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 98-106 |
| Number of pages | 9 |
| Journal | Hearing, Balance and Communication |
| Volume | 15 |
| Issue number | 2 |
| DOIs | |
| State | Published - Apr 3 2017 |
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Keywords
- hearing loss
- mutation
- MYO7A
- retinitis pigmentosa
- Usher syndrome
ASJC Scopus subject areas
- Otorhinolaryngology
- Speech and Hearing
Cite this
Genetic screening revealed usher syndrome in a paediatric Chinese patient. / Qu, Chunyan; Liang, Fenghe; Long, Qin; Zhao, Min; Shang, Haiqiong; Fan, Lynn; Wang, Li; Yan, Denise; Liu, Xue Z.
In: Hearing, Balance and Communication, Vol. 15, No. 2, 03.04.2017, p. 98-106.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic screening revealed usher syndrome in a paediatric Chinese patient
AU - Qu, Chunyan
AU - Liang, Fenghe
AU - Long, Qin
AU - Zhao, Min
AU - Shang, Haiqiong
AU - Fan, Lynn
AU - Wang, Li
AU - Yan, Denise
AU - Liu, Xue Z
PY - 2017/4/3
Y1 - 2017/4/3
N2 - Introduction: Usher syndrome (USH) is the most common cause of hereditary deaf-blindness. Three clinical subtypes have been classified. USH type I is the most severe subtype characterized by congenital severe-to-profound hearing loss, retinitis pigmentosa and vestibular dysfunction. Methods: One family was analyzed and the analysis included the combination of a custom capture/next-generation sequencing panel of 180 known deafness gene, Sanger sequencing and bioinformatics approaches. Results: Compound heterozygous mutations in the MYO7A gene: a known missense mutation c.494C > T (p.Thr165Met) and a novel missense mutation c.6113G > A (p.Gly2038Glu) were identified in a proband. This Chinese hearing-impaired child was misdiagnosed as non-syndromic hearing loss which was later changed to the diagnosis of USH type I after comprehensive audiometric, vestibular and ophthalmological examinations at 9 years old. Conclusions: Due to the features of genetic heterogeneity and variation in clinical manifestation, molecular diagnosis and ophthalmological examinations by skilled ophthalmologists with knowledge of USH should be suggested as a routine assessment which may improve the accuracy and reliability of etiological diagnosis for hearing loss.
AB - Introduction: Usher syndrome (USH) is the most common cause of hereditary deaf-blindness. Three clinical subtypes have been classified. USH type I is the most severe subtype characterized by congenital severe-to-profound hearing loss, retinitis pigmentosa and vestibular dysfunction. Methods: One family was analyzed and the analysis included the combination of a custom capture/next-generation sequencing panel of 180 known deafness gene, Sanger sequencing and bioinformatics approaches. Results: Compound heterozygous mutations in the MYO7A gene: a known missense mutation c.494C > T (p.Thr165Met) and a novel missense mutation c.6113G > A (p.Gly2038Glu) were identified in a proband. This Chinese hearing-impaired child was misdiagnosed as non-syndromic hearing loss which was later changed to the diagnosis of USH type I after comprehensive audiometric, vestibular and ophthalmological examinations at 9 years old. Conclusions: Due to the features of genetic heterogeneity and variation in clinical manifestation, molecular diagnosis and ophthalmological examinations by skilled ophthalmologists with knowledge of USH should be suggested as a routine assessment which may improve the accuracy and reliability of etiological diagnosis for hearing loss.
KW - hearing loss
KW - mutation
KW - MYO7A
KW - retinitis pigmentosa
KW - Usher syndrome
UR - http://www.scopus.com/inward/record.url?scp=85018315681&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85018315681&partnerID=8YFLogxK
U2 - 10.1080/21695717.2017.1321217
DO - 10.1080/21695717.2017.1321217
M3 - Article
AN - SCOPUS:85018315681
VL - 15
SP - 98
EP - 106
JO - Hearing, Balance and Communication
JF - Hearing, Balance and Communication
SN - 2169-5717
IS - 2
ER -