Diagnosis and Molecular Biology of Hereditary Hearing Loss

1995 ◽  
Vol 112 (5) ◽  
pp. P102-P102
Author(s):  
Richard J.H. Smith ◽  
Kenneth M. Grundfast
Keyword(s):  
Hearing Loss ◽  
Molecular Biology ◽  
Hearing Impairment ◽  
Clinical Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Hereditary Hearing Loss ◽  
Hereditary Hearing Impairment

Educational objectives: To understand the types of hereditary hearing impairment (autosomal dominant, autosomal recessive, X-linked, mitochondrial, syndromic, nonsyndromic) and the importance of clinical diagnosis in molecular genetic studies of hereditary hearing impairment.

scholarly journals Mutation analysis of the SLC26A4 gene in patients in Yakutia with inner ear abnormalities: IP-I, IP-II (Mondini) and / or EVA

2020 ◽  
pp. 46-48
Author(s):  
Л.А. Кларов ◽  
К.Ю. Николаева ◽  
А.А. Никанорова ◽  
А.М. Чердонова ◽  
М.М. Попов ◽  
...  
Keyword(s):  
Inner Ear ◽  
Hearing Impairment ◽  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Autosomal Recessive Form ◽  
Slc26a4 Gene ◽  
Recessive Form ◽  
Congenital Hearing Impairment

В работе представлены результаты обследований 165 пациентов с врожденными нарушениями слуха из Якутии, проведенных с использованием аудиологических, рентгенологических и молекулярно-генетических методов с целью изучения аутосомно-рецессивной формы глухоты, связанной с аномалиями внутреннего уха (IP-I, IP-II и/или EVA) и мутациями гена SLC26A4 (DFNB4, MIM 600791). We presents the results of audiological, radiological and molecular genetic studies of 165 patients with congenital hearing impairment in Yakutia to investigate of autosomal recessive form of deafness associated with anomalies of the inner ear (IP-I, IP-II and / or EVA) and mutations in the SLC26A4 gene (DFNB4, MIM 600791).

scholarly journals Genetic hearing loss: a study of 228 Brazilian patients

2000 ◽  
Vol 23 (1) ◽  
pp. 25-27 ◽  
Author(s):  
Silvia Bragagnolo Longhitano ◽  
Décio Brunoni
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Genetic Etiology ◽  
Parental Consanguinity ◽  
Genetic Hearing Loss ◽  
Associated Abnormalities

We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case. Deafness with no associated abnormalities was found in 146 patients (64%) belonging to 112 families. Syndromic deafness was diagnosed in 82 patients (36%) belonging to 76 families. The genetic etiology was as follows: autosomal recessive inheritance in 40.8% of syndromics and non-syndromics, autosomal dominant inheritance in 13.2% and X-linked recessive in 1.3%. In 44.7% of the cases, the etiology of the hearing loss could not be determined. Monogenic causes are the most possible etiology in the latter cases. Parental consanguinity was found in 22.4% of the cases, and deafness was bilateral, profound and neurosensorial in 47.4% of the patients. An early onset of hearing loss (< 2 years of age) occurred in 46.5% of the cases. These results are similar to previous literature reports.

scholarly journals Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency

2009 ◽  
Vol 55 (1) ◽  
pp. 28-30
Author(s):  
N Yu Kalinchenko ◽  
N A Zubkova ◽  
A N Tyulpakov
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Genetic Studies ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
History Of ◽  
17 Hydroxyprogesterone ◽  
Aldosterone Synthase Deficiency

Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. This paper is the first in the Russian literature to describe cases of isolated aldosterone deficiency. In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. By using the presented cases as an example, the authors give an algorithm for the examination and differential diagnosis of this condition and other diseases that have the similar clinical picture. Aldosterone synthase deficiency in patients was verified by molecular genetic studies - there were mutations in the CYP112 gene.

scholarly journals Identification of a Large Deletion, Spanning Exons 4 to 11 of the Human Factor XIIIA Gene, in a Factor XIII-Deficient Family

Blood ◽  
1998 ◽  
Vol 91 (1) ◽  
pp. 149-153 ◽  
Author(s):  
Rashida Anwar ◽  
Krzysztof J.A. Miloszewski ◽  
Alexander F. Markham
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Point Mutations ◽  
Autosomal Recessive Disorder ◽  
Large Deletion ◽  
Factor Xiiia ◽  
Paternal Allele ◽  
Bleeding Tendency ◽  
Genetic Studies ◽  
Polymerase Chain

Inherited deficiency of factor XIIIA subunit (FXIIIA) is an autosomal recessive disorder that is characterized by a life-long bleeding tendency and complications in wound healing. Molecular genetic studies have shown the deficiency can be due to small sequence changes within the FXIIIA gene, such as point mutations or microdeletions. On molecular analysis of the FXIIIA gene in an FXIII-deficient patient, of United Kingdom origin, we identified a putative homozygous missense mutation, Arg408Gln. However, the father of this patient is homozygous normal for arginine at codon 408. Having proved paternity in this pedigree by microsatellite analysis, we examined the FXIIIA RNA of the patient by reverse transcriptase-polymerase chain reaction and found the paternal allele to lack exons 4 through 11 inclusive. Hence, a huge deletion extending from intron 3 to intron 11 and the Arg408Gln mutation are jointly responsible for FXIIIA deficiency in this family. This is the first finding of such a large deletion in the FXIIIA gene.

scholarly journals Pleural pathology in HIV-infected patients: features of morphological diagnostics

Morphologia ◽  
2021 ◽  
Vol 15 (3) ◽  
pp. 109-118
Author(s):  
I.V. Liskina ◽  
L.M. Zagaba
Keyword(s):  
Hiv Infection ◽  
Clinical Diagnosis ◽  
Molecular Genetic ◽  
Unknown Etiology ◽  
Pleural Effusions ◽  
Cd4 Cells ◽  
Morphological Examination ◽  
Genetic Studies ◽  
Pleural Tuberculosis ◽  
Morphological Diagnostics

Background. The progression of HIV infection is accompanied by the development of opportunistic diseases, including pleural effusions of various origins. Morphological examination of pleura tissue in cases of pleural effusion serves as the basis for establishing the etiology of the pathological process and, therefore, the final clinical diagnosis. Objective – analysis of results of morphological diagnostics of pleura lesions in HIV-infected patients in comparison with other laboratory tests and clinical diagnosis. Methods. 103 cases of pleurisy of various origins were studied. Pleural biopsies were obtained by various types of minimally invasive diagnostic interventions with subsequent morphological examination. Results were compared with the available data of microbiological and molecular genetic studies of pleural biopsies. Results. At the time of hospitalization the preliminary clinical diagnosis was pleurisy of unknown etiology in 96,1 % of cases. A combined disease was diagnosed – hepatitis C in a third of all observations according to the results of laboratory tests. Due to routine staining with hematoxylin and eosin, tuberculosis lesions of the pleura were diagnosed in 59,2 %, the second most frequent was the diagnosis of nonspecific pleurisy, 20,4 %. According to the duration of the process, acute pleural tuberculosis was established in 19,7 % of cases, the subacute form of tuberculosis pleurisy – in 54,1 % of cases, and chronic pleural tuberculosis was established in 22,9 % of cases. In 17,5 % of cases, in order to clarify the etiology of pleurisy, additional histochemical staining for infectious agents was performed. The results of microbiological and molecular genetic studies were established in 76,7 % of cases. The greatest number of M. tuberculosis detection was obtained during the culture study of the biopsy material and exudates. When comparing the final clinical diagnosis and the level of CD4 cells in peripheral blood, it was found that in most cases (74,5 %) pleural effusions developed at low counts of CD4 cells, less than 350/l. Conclusion. Tuberculosis predominates in the etiological structure of pleural effusions in patients with HIV infection. Pleural tuberculosis can be the main secondary disease or be combined with pulmonary tuberculosis. In second place in terms of frequency of occurrence, nonspecific pleurisy was diagnosed as a complication of the main secondary disease. Pleural effusions develop when CD4 cell counts are low. Morphological diagnostics of pleural lesions is the main research method in the diagnostic algorithm of cases of pleural effusions of unknown etiology against the background of HIV infection.

scholarly journals A Novel GDAP1 Mutation 439delA is Associated with Autosomal Recessive CMT Disease

2006 ◽  
Vol 33 (3) ◽  
pp. 311-316 ◽  
Author(s):  
Domna-Maria Georgiou ◽  
Paschalis Nicolaou ◽  
David Chitayat ◽  
Pantelitsa Koutsou ◽  
Riyana Babul-Hirji ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Sensory Neuropathy ◽  
Pathogenic Mutation ◽  
Chromosome 8 ◽  
Consanguineous Family ◽  
Single Nucleotide ◽  
The Family ◽  
Neuropathological Criteria

Background:Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes have been identified in association with the demyelinating AR-CMT disease. We hereby report our clinical and molecular genetic findings in a consanguineous family with AR-CMT.Methods:Two young sisters with AR-CMT and other non-affected family members were clinically and electrophysiologically evaluated and then molecular genetic investigation was carried out in order to identify the pathogenic mutation.Results:Following an initial indication for linkage of the family to the CMT4A locus on chromosome 8, we sequenced the Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene and identified a single nucleotide deletion in exon 3 that is associated with AR-CMT in the family.Conclusion:We identified a novel GDAP1 439delA mutation that is associated with AR-CMT in a consanguineous family of Iranian descent with two affected young girls and a history in other members of the family.

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families

2017 ◽  
Vol 800-802 ◽  
pp. 29-36 ◽  
Author(s):  
Moza K. Alkowari ◽  
Diego Vozzi ◽  
Shruti Bhagat ◽  
Navaneethakrishnan Krishnamoorthy ◽  
Anna Morgan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Targeted Sequencing ◽  
Hereditary Hearing Loss ◽  
Novel Variants

scholarly journals Molecular genetic analysis of the EXT2 gene - causes of hereditary multiple exostoses in Yakuts

2020 ◽  
pp. 59-60
Author(s):  
А.Е. Яковлева ◽  
Д.А. Петухова ◽  
А.Л. Данилова ◽  
А.Л. Сухомясова ◽  
Н.Р. Максимова
Keyword(s):  
Genetic Analysis ◽  
Clinical Diagnosis ◽  
Sanger Sequencing ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Studies ◽  
Rare Mutation ◽  
Parallel Sequencing ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses

В статье представлены результаты молекулярно-генетических исследованиий больных с множественной экзостозной хондродисплазией (МЭХД), причиной которой явилась редкая мутация в гене EXT2. Исследованы 65 больных с МЭХД и их родственников из 30 неродственных семей. Для молекулярно-генетического анализа было использовано массовое параллельное секвенирование и прямое секвенирование по Сэнгеру. У 16 больных из 4 семей с клиническим диагнозом МЭХД была выявлена редкая нонсенс-мутация c.751С>T в экзоне 5 гена EXT2 в гетерозиготном состоянии. Here we present molecular genetic studies of Yakut patients with hereditary multiple exostoses (HME), which caused by a rare mutation in the EXT2 gene. A total of 65 patients with clinical diagnosis of HME and their relatives from 30 unrelated families were examined. For molecular genetic analysis, massive parallel sequencing (MPS) and direct Sanger sequencing were used. In 16 patients from 4 families with a clinical diagnosis of HME, a rare heterozygous nonsense mutation c.751C> T was detected in exon 5 of the EXT2.

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