scholarly journals Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kan Wu ◽  
Zhumei Li ◽  
Yuhua Zhu ◽  
Xiaocheng Wang ◽  
Guohui Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinal Detachment ◽  
Sensorineural Hearing Loss ◽  
Short Stature ◽  
Sensorineural Hearing ◽  
Spondyloepiphyseal Dysplasia ◽  
Auditory Ossicles ◽  
The Family ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Wrist Joints

Abstract Background Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirmed as the pathogenic gene. Hearing loss represents an infrequent manifestation for 25–30% of patients with SEDC. The characteristics of the hearing impairment were rarely documented. Methods Audiological, ophthalmic, imaging examinations were conducted on the family members. The whole exome sequencing (WES) was performed to detect the candidate gene, and the Sanger sequencing was used to confirm the causative variation. Results COL2A1 c.1510G>A (p.G504S), a hot spot variation, was identified as the disease-causing mutation of the Chinese Li nationality family with SEDC. This variation was co-segregated with the SEDC phenotype in the family and was absent in the 1000 Genomes Project, ESP and ExAC. Clinically, several manifestations were first demonstrated in SEDC patients caused by p.G504S, including sensorineural hearing loss, auditory ossicles deformity, retinal detachment, sacrum cracked and elbow and wrist joints deformity. Other classical SEDC manifestations such as bones and joints pain, midfacial dysplasia, disproportionate short stature, spinal deformity, thoracocyllosis, coxa arthropathy, myopia and waddling gait were also showed in the family patients. Conclusion We first identified the mutation p.G504S in COL2A1 gene as the pathogenesis in a Chinese Li nationality family and reported the correlation between p.G504S and atypical clinical phenotypes including sensorineural hearing loss, auditory ossicles deformity, retinal detachment, sacrum cracked and elbow and wrist joints deformity. Our findings would extend the phenotypic spectrum of SEDC and deepen clinicians' understanding of genotype–phenotype correlation of the disease.

Autosomal-Dominant Progressive Sensorineural Hearing Loss in a Large North American Family

1996 ◽  
Vol 5 (1) ◽  
pp. 105-111 ◽  
Author(s):  
Chris Halpin ◽  
Umang Khetarpal ◽  
Michael McKenna
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
North American ◽  
Autosomal Dominant ◽  
Family Members ◽  
Sensorineural Hearing ◽  
American Family ◽  
Dominant Mutation ◽  
The Family ◽  
Temporal Bones

Forty-nine members of a family with autosomal-dominant progressive sensorineural hearing loss were evaluated by audiologists, otologists, and geneticists. The results presented here show a nonsyndromic, autosomal-dominant mutation causing progressive sensorineural hearing loss beginning at about age 20 and becoming profound by approximately age 45. Because of the unambiguous nature of the hearing loss, the size of the family, and the availability of two previously described temporal bones from family members, a fairly complete description of the nature and impact of this mutation will be presented.

scholarly journals Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families

Genes ◽  
2019 ◽  
Vol 10 (12) ◽  
pp. 1031 ◽  
Author(s):  
Muhammad Noman ◽  
Rafaqat Ishaq ◽  
Shazia A. Bukhari ◽  
Zubair M. Ahmed ◽  
Saima Riazuddin
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Low Frequencies ◽  
Locus Heterogeneity ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
The Family ◽  
Novel Variants ◽  
Pakistani Families

Hearing loss is a genetically heterogeneous disorder affecting approximately 360 million people worldwide and is among the most common sensorineural disorders. Here, we report a genetic analysis of seven large consanguineous families segregating prelingual sensorineural hearing loss. Whole-exome sequencing (WES) revealed seven different pathogenic variants segregating with hearing loss in these families, three novel variants (c.1204G>A, c.322G>T, and c.5587C>T) in TMPRSS3, ESRRB, and OTOF, and four previously reported variants (c.208C>T, c.6371G>A, c.226G>A, and c.494C>T) in LRTOMT, MYO15A, KCNE1, and LHFPL5, respectively. All identified variants had very low frequencies in the control databases and were predicted to have pathogenic effects on the encoded proteins. In addition to being familial, we also found intersibship locus heterogeneity in the evaluated families. The known pathogenic c.226C>T variant identified in KCNE1 only segregates with the hearing loss phenotype in a subset of affected members of the family GCNF21. This study further highlights the challenges of identifying disease-causing variants for highly heterogeneous disorders and reports the identification of three novel and four previously reported variants in seven known deafness genes.

The association between short stature and sensorineural hearing loss

2005 ◽  
Vol 205 (1-2) ◽  
pp. 123-130 ◽  
Author(s):  
Marie-Louise Barrenäs ◽  
Åsa Bratthall ◽  
Jovanna Dahlgren
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Short Stature ◽  
Sensorineural Hearing

‘H-syndrome’: a multisystem genetic disorder with cutaneous clues

2021 ◽  
Vol 14 (5) ◽  
pp. e238973
Author(s):  
Krishna Shantilal Mori ◽  
Karthik Balachandran ◽  
Adyne Reena Asirvatham ◽  
Shriraam Mahadevan
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Short Stature ◽  
World Literature ◽  
Genetic Disorder ◽  
Insulin Dependent Diabetes Mellitus ◽  
Sensorineural Hearing ◽  
Dependent Diabetes Mellitus ◽  
Homozygous Mutation ◽  
Rare Syndrome

We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. His phenotype was consistent with that of a rare autosomal recessive genodermatosis of ‘H-syndrome’. The diagnosis was confirmed by genetic analysis using next-generation sequencing which showed a homozygous mutation in the SLC29A3 gene (variant: c.1330G>T (p.Glu444Ter)) which was confirmed by Sanger sequencing. This is a rare syndrome with around 100 cases reported in world literature. Though the skin manifestations are pathognomonic of the H-syndrome, it has myriad presentations like short stature, insulin-dependent diabetes mellitus, hypogonadism, hypothyroidism, dyslipidaemia, cardiac anomalies and sensorineural hearing loss. We report this case to highlight the constellation of features of this rare syndrome and bring awareness among the physicians to be vigilant about this syndrome.

scholarly journals Vogt-Koyanagi-Harada Syndrome: case report

2021 ◽  
Author(s):  
Vitória Pimentel da Silva ◽  
Lucas Immich Gonçalves ◽  
Giordani Rodrigues dos Passos ◽  
Maísa Kappel ◽  
Mayumi Charão ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Hearing Loss ◽  
Case Report ◽  
Retinal Detachment ◽  
Sensorineural Hearing Loss ◽  
Brain Mri ◽  
Serous Retinal Detachment ◽  
Sensorineural Hearing ◽  
Symptom Improvement ◽  
Red Eye

Context: Red eye complaints are common in medical practice. Trauma, infection and autoimmune disorders are possible causes. It is essential to diagnose early to avoid sequelae. Case report: Female, 58 years old, 30 days of progression of bilateral frontal and retro-orbital headache associated with red eye and decreased visual acuity in both eyes, otalgia and tinnitus in the left ear. No trauma history. She started treatment in another hospital with acyclovir for suspected viral meningitis and was referred for evaluation after 10 days due to the lack of improvement. In our evaluation, the patient had severely impaired visual acuity (counted fingers in the RE and 20/400 in the LE), with uveitis, papilloedema and bilateral serous retinal detachment. Lumbar puncture showed aseptic meningitis (940 leukocytes with 100% lymphocytes, 66 mg/dL proteins, normal glucose and negative evaluation for CSF infections). Laboratory tests showed an increase in inflammatory markers (VSG 121) and positive anti-TPO, with other negative autoantibodies. Brain MRI with subacute retinal detachment, without intracranial lesions. Audiometry with mild to moderate bilateral sensorineural hearing loss. The patient was treated with IV methylprednisolone for 5 days with partial symptom improvement. Conclusion: Among the bilateral uveitis causes, it is crucial to remember Vogt-Koyanagi-Harada Syndrome (VKH), which occurs through bilateral uveitis, sometimes accompanied by retinal detachment, in association with hypochromic skin lesions, sensorineural hearing loss, headache and aseptic meningitis2 . VKH results from an autoimmune lesion in the melanocytes3 . Treatment should be done with topical corticosteroid, associated with cycloplegics and systemic corticosteroid therapy with long-term immunosuppression2.

Hereditary deafness in chilldren: Diagnosis and a family report

1979 ◽  
Vol 93 (5) ◽  
pp. 495-506 ◽  
Author(s):  
Reda A. A. Ibrahim ◽  
Fred H. Linthicum
Keyword(s):  
Hearing Loss ◽  
Early Diagnosis ◽  
Sensorineural Hearing Loss ◽  
Hearing Aids ◽  
Hard Of Hearing ◽  
Speech Development ◽  
Sensorineural Hearing ◽  
Membranous Labyrinth ◽  
Hereditary Deafness ◽  
The Family

Synopsis abstractA FAMILY with hereditary deafness is presented. The mother and ten of her children suffer sensorineural hearing loss. The maternal grandparents and four uncles and aunts were all hard of hearing. Clinical examination revealed no accompanying gross anomalies. In one child, Mondini deformity is the cause of deafness. In the rest of the family isolated membranous labyrinth deformity is suggested.The methods of early diagnosis are discussed, among which polytomography proved the most reliable for diagnosing Mondini and Michel deformities. We demonstrated how early fitting of hearing aids is essential for language acquisition and speech development.Clinical ability to differentiate between subtypes of inner ear hereditary deafness not accompanied by gross anomalies is limited. This problem and the problem arising from late diagnosis are illustrated by a report on a family of ten children, nine of whom suffer sensorineural hearing loss.

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