scholarly journals A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene

2019 ◽  
Vol 58 (12) ◽  
pp. 1439-1443 ◽  
Author(s):  
Marwa Sayeb ◽  
Zied Riahi ◽  
Nadia Laroussi ◽  
Crystel Bonnet ◽  
Lilia Romdhane ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Novel Mutation ◽  
Lamellar Ichthyosis ◽  
Tunisian Family

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

2010 ◽  
Vol 16 (2) ◽  
pp. 93-105 ◽  
Author(s):  
Anne-Martine R. de Heer ◽  
Rob W.J. Collin ◽  
Patrick L.M. Huygen ◽  
Margit Schraders ◽  
Jaap Oostrik ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Vestibular Function ◽  
Sensorineural Hearing

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker–Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss

2018 ◽  
Vol 49 (04) ◽  
pp. 289-295 ◽  
Author(s):  
Muna Al Dhaibani ◽  
Ayman El-Hattab ◽  
Omar Ismayl ◽  
Jehan Suleiman
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Craniocervical Junction ◽  
Epileptic Encephalopathy ◽  
Brain Disease ◽  
West Syndrome ◽  
Sensorineural Hearing ◽  
Muscle Disease

AbstractMutations in B3GALNT2, encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2-related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2. The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia. The clinical and radiologic findings are compatible with a diagnosis of severe muscle-eye-brain disease and more specifically Walker–Warburg syndrome. A more distinct aspect of the clinical phenotype in this child is the presence of refractory epilepsy in the form of epileptic spasms, epileptic encephalopathy, and West syndrome, as well as sensorineural hearing loss. These findings could expand the phenotype of B3GALNT2-related dystroglycanopathy. In this report, we also provide a detailed review of previously reported cases with B3GALNT2-related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype–phenotype correlation in these cases.

scholarly journals Cochlear Implantation in a Patient with a Novel POU3F4 Mutation and Incomplete Partition Type-III Malformation

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Xiuhua Chao ◽  
Yun Xiao ◽  
Fengguo Zhang ◽  
Jianfen Luo ◽  
Ruijie Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Bioinformatic Analysis ◽  
Chinese Family ◽  
Whole Exome ◽  
Novel Variant ◽  
Genetic Features ◽  
The Right

Aims. This study is aimed at (1) analyzing the clinical manifestations and genetic features of a novel POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family and (2) reporting the outcomes of cochlear implantation in a patient with this mutation. Methods. A patient who was diagnosed as the IP-III malformation underwent cochlear implantation in our hospital. The genetic analysis was conducted in his family, including the whole-exome sequencing combined with Sanger sequencing and bioinformatic analysis. Clinical features, preoperative auditory and speech performances, and postoperative outcomes of cochlear implant (CI) were assessed on the proband and his family. Results. A novel variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was detected in the family, which was cosegregated with the hearing loss. This variant was absent in 200 normal-hearing persons. The phylogenetic analysis and structure modeling of Pou3f4 protein further confirmed that the novel mutation was pathogenic. The proband underwent cochlear implantation on the right ear at four years old and gained greatly auditory and speech improvement. However, the benefits of the CI declined about three and a half years postoperation. Though the right ear had been reimplanted, the outcomes were still worse than before. Conclusion. A novel frame shift variant c.400_401insACTC (p.Q136LfsX58) in the POU3F4 gene was identified in a Chinese family with X-linked inheritance hearing loss. A patient with this mutation and IP-III malformation could get good benefits from CI. However, the outcomes of the cochlear implantation might decline as the patient grows old.

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene

2010 ◽  
Vol 30 (6) ◽  
pp. 405-411 ◽  
Author(s):  
Emna Mkaouar-Rebai ◽  
Nourhene Fendri-Kriaa ◽  
Nacim Louhichi ◽  
Abdelaziz Tlili ◽  
Chahnez Triki ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Genome ◽  
Novel Mutation ◽  
Hot Spot ◽  
12S Rrna ◽  
Rrna Gene ◽  
12S Rrna Gene ◽  
Genome Screening ◽  
Mitochondrial 12S Rrna ◽  
Syndromic Hearing Loss

Sensorineural hearing loss has been described in association with different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNASer(UCN) and the tRNALeu(UUR) genes, were implicated in syndromic or non-syndromic hearing loss either as a primary cause or as predisposing factors. In the present study, we performed a whole mitochondrial genome screening in two unrelated Tunisian families with inherited hearing loss. Results showed the presence of a novel mutation in the mitochondrial 12S rRNA gene in the two probands of these two families who belong to two different haplogroups: L3 and H6a1. The m.735A>G mutation affects a conserved nucleotide of the mitochondrial 12S rRNA gene in primates and other species and had a conservation index of 78.5% (11/14). We also detected known polymorphisms and sic novel mitochondrial variants. The present study confirmed that the mitochondrial 12S rRNA gene is a hot spot for mutations associated with hearing impairment.

scholarly journals A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss

2015 ◽  
Vol 10 (2) ◽  
pp. 78-82 ◽  
Author(s):  
Bang-qing Huang ◽  
Jia-ling Zeng ◽  
Yong-yi Yuan ◽  
Pu Dai
Keyword(s):  
Hearing Loss ◽  
Novel Mutation ◽  
Chinese Family ◽  
Syndromic Hearing Loss

scholarly journals Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 177S-183S ◽  
Author(s):  
Hideaki Moteki ◽  
Hela Azaiez ◽  
Kevin T. Booth ◽  
Mitsuru Hattori ◽  
Ai Sato ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Myopathy ◽  
Massively Parallel Sequencing ◽  
Novel Mutation ◽  
Massively Parallel ◽  
Nonsyndromic Hearing Loss ◽  
Potential Explanation ◽  
Atp Production ◽  
First Case ◽  
Targeted Genomic Enrichment

Objectives: We present a family with a mitochondrial DNA 3243A>G mutation resulting in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), of which some members have hearing loss in which a novel mutation in the P2RX2 gene was identified. Methods: One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic causes of hearing loss. Results: A novel mutation in the P2RX2 gene that corresponded to c.601G>A (p.Asp201Tyr) was identified. Two patients carried the mutation and had severe sensorineural hearing loss, while other members with MELAS (who did not carry the P2RX2 mutation) had normal hearing. Conclusion: This is the first case report of a diagnosis of hearing loss caused by P2RX2 mutation in patients with MELAS. A potential explanation is that a decrease in adenosine triphosphate (ATP) production due to MELAS with a mitochondrial 3243A>G mutation might suppress activation of P2X2 receptors. We also suggest that hearing loss caused by the P2RX2 mutation might be influenced by the decrease in ATP production due to MELAS.

scholarly journals A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

2011 ◽  
Vol 21 (3) ◽  
pp. 577-585 ◽  
Author(s):  
Giulia Soldà ◽  
Michela Robusto ◽  
Paola Primignani ◽  
Pierangela Castorina ◽  
Elena Benzoni ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Novel Mutation ◽  
Mirna Processing ◽  
Italian Family
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