Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment

Westergaard-Nielsen, Marie; Amstrup, Tine; Wanscher, Jens Højberg; Brusgaard, Klaus; Ousager, Lilian Bomme

doi:10.1016/j.ijporl.2018.03.008

Cited by 4 publications

(3 citation statements)

References 26 publications

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“…Although bone conduction hearing aids provide efficient rehabilitation for conductive hearing loss, it is important to remember that conductive hearing loss due to NOG variants generally benefits greatly from stapes surgery (Vincent et al, 2016;Westergaard et al, 2018). The surgical skills of the operator and the choice of appropriate prosthesis that can adapt to the potential anatomic anomalies of the ossicular chain present in Teunissen-Cremers syndrome/SABTT are crucial (Coombs and Bird 2016).…”

Section: Discussionmentioning

confidence: 99%

A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant

Parmeggiani¹,

Gualandi

Limarzi

et al. 2022

Clinical Dysmorphology

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Section: Discussionmentioning

confidence: 99%

A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant

Parmeggiani¹,

Gualandi

Limarzi

et al. 2022

Clinical Dysmorphology

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“…For SABTT, only one case maintained good hearing for more than 10 years after stapedotomy (Usami et al, 2012). However, several SYM1 patients showed good effects after stapedectomy, lasting from 18 months to 38 years (Westergaard‐Nielsen et al, 2018). We believe that more long‐term follow‐up of the surgical outcome is required to assess the value of surgery.…”

Section: Discussionmentioning

confidence: 99%

Multiple synostoses syndrome: Clinical report and retrospective analysis

Pan

Lü

et al. 2020

American J of Med Genetics Pt A

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Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies.We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotypephenotype correlations have been identified for mutations in NOG in different races.Regular systematic examinations and hearing aids are beneficial for this syndrome.However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.Zhaoyu Pan and Wei Lu contributed equally to this work.The English in this document has been checked by at least two professional editors, both native speakers of English. For a certificate, please see: http://www.textcheck.com/certificate/y4aVIb. conductive hearing loss, multiple synostoses syndrome, NOG, proximal symphalangism

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“…According to the Human Gene mutation database (http://www. hgmd.cf.ac.uk/ac/index.php), more than 60 dominant inherited variants in NOG gene were reported, associated with overlapping syndromes: Stapes ankylosis with broad thumb and toes, symphalangism proximal 1A, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome and bradydactyly type B [4,7]. To date, only six missense variants in NOG have been reported to cause BDB2 [3].…”

Section: Introductionmentioning

confidence: 99%

A Novel NOG Variant Causes Brachydactyly Type B2: A Case Report

Faten¹,

Elaribi²,

Rejeb³

et al. 2020

OPROJ

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Background: Brachydactyly type B2 (BDB2) is a very rare form of brachydactyly, characterized by hypoplasia or aplasia of the middle to distal phalanges of fingers and/or toes in combination with distal symphalangism. It is caused by dominant mutations in the NOG gene encoding noggin protein. Case presentation:In the present study, we report a Tunisian family composed of three affected subjects showing varying degrees of BDB2. We performed a direct sequencing of NOG, and we identified a novel missense heterozygous mutation c.503T>C (p.F168S), which is likely pathogenic according to the prediction programs. This new variation enlarges the mutation spectrum of the NOG gene. Conclusion:To the best of our knowledge, this is the first molecular study of BDB2 in Tunisian family.

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Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment

Cited by 4 publications

References 26 publications

A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant

A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant

Multiple synostoses syndrome: Clinical report and retrospective analysis

A Novel NOG Variant Causes Brachydactyly Type B2: A Case Report

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