scholarly journals Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism

2020 ◽  
Vol 40 (6) ◽  
Author(s):  
Zhuang-Zhuang Yuan ◽  
Fang Yu ◽  
Jie-Yuan Jin ◽  
Zi-Jun Jiao ◽  
Ju-Yu Tang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Conductive Hearing Loss ◽  
Genetic Diagnosis ◽  
Chinese Patient ◽  
Chinese Family ◽  
Autosomal Dominant Disorder ◽  
Genetic Lesion ◽  
Whole Exome ◽  
The Family ◽  
Conductive Hearing

Abstract Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proximal interphalangeal joints in the 2–5 digits without conductive hearing loss. Family history investigation revealed that his mother and grandfather also suffered from SYM1. Whole exome sequencing was performed to detect the genetic lesion of the family. The candidate gene variants were validated by Sanger sequencing. By data filtering, co-segregation analysis and bioinformatics analysis, we highly suspected that an unknown heterozygous frameshift variant (c.635_636insG, p.Q213Pfs*57) in NOG was responsible for the SYM1 in the family. This variant was predicted to be deleterious and resulted in a prolonged protein. This finding broadened the spectrum of NOG mutations associated with SYM1 and contributed to genetic diagnosis and counseling of families with SYM1.

Polygenic Inheritance of Otosclerosis

1976 ◽  
Vol 85 (2) ◽  
pp. 281-285 ◽  
Author(s):  
Judith C. Mendlowitz ◽  
Kurt Hirschhorn
Keyword(s):  
Hearing Loss ◽  
General Population ◽  
Mathematical Analysis ◽  
Conductive Hearing Loss ◽  
Extended Family ◽  
Large Family ◽  
Polygenic Inheritance ◽  
Increased Risk ◽  
The Family ◽  
Conductive Hearing

A large family has been studied and its pedigree traced for six generations. Fifteen relatives are known to have had otosclerosis. Of these, the only six individuals who developed this disease before the age of twenty were offspring of second-cousin marriages. Other children in the extended family developed the disease later and may have had somewhat less severe symptoms. The original hypothesis that the severe, early onset cases occurred among those homozygous for a monogenic trait became improbable on mathematical analysis. We conclude that the inheritance of otosclerosis in this family is polygenic and probably multifactorial. Individuals marrying within the family have a greatly increased risk of giving birth to children who will develop otosclerosis early, and perhaps severely. Those who marry outside the family have a greatly decreased risk. They do, of course, have a higher risk than the general population of having children who will at some point experience a conductive hearing loss.

scholarly journals MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Rong Yu ◽  
Lv Liu ◽  
Ya-Li Li ◽  
Liang-Liang Fan
Keyword(s):  
Hearing Loss ◽  
Genetic Disorders ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Han Chinese ◽  
White Hair ◽  
Chinese Family ◽  
Waardenburg Syndrome ◽  
Genetic Lesion

Waardenburg syndrome (WS) is a group of rare genetic disorders characterized by hearing loss, changes in coloring of hair, skin, and eyes, and alterations in the shape of the face. Tietz syndrome is another rare disorder which presented similar phenotypes to WS. Patients with Tietz/Waardenburg syndrome often present with pale blue eyes, albino skin, and distinctive hair coloring, such as a patch of white hair or hair that prematurely turns gray. At present, more than six candidate genes are responsible for four types of Waardenburg syndrome and Tietz syndrome. This study is aimed at identifying the pathogenic gene variants in a three-generation Han Chinese family with hearing loss, blue-gray iris, albino skin, and white hair. In order to discover the molecular genetic lesion underlying the disease phenotype, whole exome sequencing in the proband, with Tietz/Waardenburg syndrome phenotypes, of a Han Chinese family from HeBei, China, was conducted. A novel heterozygous c.650G>C/p.Arg217Thr variant in melanocyte inducing transcription factor (MITF) was identified. Sanger sequencing further validated that this mutation existed in three affected individuals and absent in healthy family members. Bioinformatics analysis predicted that this mutation was deleterious. Our study further identified the genetic lesion of the family. Simultaneously, our study may also contribute to genetic counseling, embryonic screening of in vitro fertilized embryos, and prenatal genetic diagnosis of patients with Tietz/Waardenburg syndrome, especially for the proband, unmarried and unpregnant women, to reduce familial transmission in this Han Chinese family.

scholarly journals Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Cong Ma ◽  
Lv Liu ◽  
Fang-Na Wang ◽  
Hai-Shen Tian ◽  
Yan Luo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Counseling ◽  
Novel Mutation ◽  
Genetic Diagnosis ◽  
Joint Space ◽  
Proximal Interphalangeal Joint ◽  
Chinese Family ◽  
Left Hand ◽  
Target Sequencing ◽  
The Family

Abstract Background Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal symphalangism have been identified in the clinic. One is proximal symphalangism-1A (SYM1A), which is caused by genetic variants in Noggin (NOG), another is proximal symphalangism-1B (SYM1B), which is resulted from Growth Differentiation Factor 5 (GDF5) mutations. Case presentation Here, we reported a Chinese family with symphalangism of the 4th and/or 5th finger and moderate deafness. The proband was a 13-year-old girl with normal intelligence but symphalangism of the 4th finger in the left hand and moderate deafness. Hearing testing and inner ear CT scan suggested that the proband suffered from structural deafness. Family history investigation found that her father (II-3) and grandmother (I-2) also suffered from hearing loss and symphalangism. Target sequencing identified a novel heterozygous NOG mutation, c.690C > G/p.C230W, which was the genetic lesion of the affected family. Bioinformatics analysis and public databases filtering further confirmed the pathogenicity of the novel mutation. Furthermore, we assisted the family to deliver a baby girl who did not carry the mutation by genetic counseling and prenatal diagnosis using amniotic fluid DNA sequencing. Conclusion In this study, we identified a novel NOG mutation (c.690C > G/p.C230W) by target sequencing and helped the family to deliver a baby who did not carry the mutation. Our study expanded the spectrum of NOG mutations and contributed to genetic diagnosis and counseling of families with SYM1A.

scholarly journals Cone-Beam CT compared to Multi-slice CT for the diagnostic analysis of conductive hearing loss, a pilot study

2016 ◽  
Vol 130 (S3) ◽  
pp. S188-S188
Author(s):  
Pieter Kemp ◽  
Jiska van Stralen ◽  
Pim de Graaf ◽  
Erwin Berkhout ◽  
Jan Wolff ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Pilot Study ◽  
Conductive Hearing Loss ◽  
Cone Beam Ct ◽  
Cone Beam ◽  
Diagnostic Analysis ◽  
Conductive Hearing

Long-term Compliance and Satisfaction With Percutaneous Bone Conduction Devices in Patients With Congenital Unilateral Conductive Hearing Loss

2015 ◽  
Vol 36 (5) ◽  
pp. 826-833 ◽  
Author(s):  
Rik C. Nelissen ◽  
Emmanuel A. M. Mylanus ◽  
Cor W. R. J. Cremers ◽  
Myrthe K. S. Hol ◽  
Ad F. M. Snik
Keyword(s):  
Hearing Loss ◽  
Conductive Hearing Loss ◽  
Bone Conduction ◽  
Conductive Hearing

scholarly journals Successive ipsilateral surgery of Vibrant Soundbridge and Bonebridge devices for congenital bilateral conductive hearing loss: a case report

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052097228
Author(s):  
Yujie Liu ◽  
Ran Ren ◽  
Shouqin Zhao
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Conductive Hearing Loss ◽  
Vibrant Soundbridge ◽  
Patient’S Experience ◽  
Hearing Devices ◽  
Conductive Hearing ◽  
Subjective Outcomes

The Bonebridge and Vibrant Soundbridge systems are semi-implanted hearing devices, which have been widely applied in patients with congenital conductive hearing loss. However, comparison between these two hearing devices is rare, especially in the same patient. We report a 23-year-old man who underwent successive implantation of Vibrant Soundbridge and Bonebridge devices in the same ear because of dysfunction of the Vibrant Soundbridge. We provide insight on the patient’s experience and compare the audiological and subjective outcomes of satisfaction.

Unexplained Conductive Hearing Loss

1980 ◽  
Vol 73 (3) ◽  
pp. 335-338 ◽  
Author(s):  
FRED H. BESS ◽  
G. W. MILLER ◽  
MICHAEL E. GLASSCOCK ◽  
GENE W. BRATT
Keyword(s):  
Hearing Loss ◽  
Conductive Hearing Loss ◽  
Conductive Hearing

scholarly journals Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Somayeh Khatami ◽  
Masomeh Askari ◽  
Fatemeh Bahreini ◽  
Morteza Hashemzadeh-Chaleshtori ◽  
Saeed Hematian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Diagnosis ◽  
Clinical Genetic ◽  
Large Size ◽  
Whole Exome ◽  
Novel Variants ◽  
Syndromic Hearing Loss ◽  
Traditional Approaches

Abstract Background Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods. Methods This study was a report on a research study of two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families. Results The results of WES data analysis to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) disease-causing variants was reported in the present study. Initial analysis identified two novel variants of MYO15A i.e. c.T6442A:p.W2148R and c.10504dupT:p.C3502Lfs*15 correspondingly which were later confirmed by Sanger validations and segregation analyses. According to online prediction tools, both identified variants seemed to have damaging effects. Conclusion In this study, whole exome sequencing were used as a first approach strategy to identify the two novel variants in MYO15A in two Iranian families with ARNSHL.

Ossicular Discontinuity and Exostoses in Proteus Syndrome: A Case Report

2005 ◽  
Vol 114 (3) ◽  
pp. 242-246
Author(s):  
Joni K. Doherty ◽  
Dennis R. Maceri
Keyword(s):  
Hearing Loss ◽  
High Frequency ◽  
Conductive Hearing Loss ◽  
Ossicular Chain ◽  
Typical Feature ◽  
Proteus Syndrome ◽  
Frequency Range ◽  
Pure Tone Average ◽  
Ossicular Chain Reconstruction ◽  
Conductive Hearing

Proteus syndrome (PS) is a rare hamartomatous disorder characterized by mosaic overgrowth of multiple tissues that manifests early in life and is progressive. The presence of unilateral external auditory canal exostoses in a patient who is not a swimmer or surfer is suggestive of PS. However, hearing loss is not a typical feature. Here, we describe exostoses and ossicular discontinuity with conductive hearing loss in a patient with PS. The treatment consisted of canalplasty and ossicular chain reconstruction. A postoperative reduction was demonstrated in the patient's air-bone gap, from 21 dB to 13 dB for the pure tone average (four frequencies) and from 41 dB to 15 dB in the high-frequency range (6,000 to 8,000 Hz). Causes of ossicular discontinuity are discussed. Routine annual audiometric and otolaryngological evaluation should be considered in all patients with temporal bone inyolvement of PS.

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