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Exome sequencing, hearing loss

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https://www.readbyqxmd.com/read/29148562/recurrence-of-reported-cdh23-mutations-causing-dfnb12-in-a-special-cohort-of-south-indian-hearing-impaired-assortative-mating-families-an-evaluation
#1
Paridhy Vanniya S, Jayasankaran Chandru, Amritkumar Pavithra, Justin Margret Jeffrey, Murugesan Kalaimathi, Rajagopalan Ramakrishnan, Natarajan P Karthikeyen, Srisailapathy C R Srikumari
Mutations in CDH23 are known to cause autosomal-recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. We screened for CDH23 mutations to identify prevalent and recurring mutations among South Indian assortative mating hearing-impaired individuals who were identified as non-DFNB1 (GJB2 and GJB6). Whole-exome sequencing was performed in individuals found to be heterozygous for CDH23 to determine whether there was a second pathogenic allele...
November 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29107558/esrp1-mutations-cause-hearing-loss-due-to-defects-in-alternative-splicing-that-disrupt-cochlear-development
#2
Alex M Rohacek, Thomas W Bebee, Richard K Tilton, Caleb M Radens, Chris McDermott-Roe, Natoya Peart, Maninder Kaur, Michael Zaykaner, Benjamin Cieply, Kiran Musunuru, Yoseph Barash, John A Germiller, Ian D Krantz, Russ P Carstens, Douglas J Epstein
Alternative splicing contributes to gene expression dynamics in many tissues, yet its role in auditory development remains unclear. We performed whole-exome sequencing in individuals with sensorineural hearing loss (SNHL) and identified pathogenic mutations in Epithelial Splicing-Regulatory Protein 1 (ESRP1). Patient-derived induced pluripotent stem cells showed alternative splicing defects that were restored upon repair of an ESRP1 mutant allele. To determine how ESRP1 mutations cause hearing loss, we evaluated Esrp1(-/-) mouse embryos and uncovered alterations in cochlear morphogenesis, auditory hair cell differentiation, and cell fate specification...
November 6, 2017: Developmental Cell
https://www.readbyqxmd.com/read/29066376/a-de-novo-mutation-in-rpl10-causes-a-rare-x-linked-ribosomopathy-characterized-by-syndromic-intellectual-disability-and-epilepsy-a-new-case-and-review-of-the-literature
#3
Danielle K Bourque, Taila Hartley, Sarah M Nikkel, Daniela Pohl, Martine Tétreault, Kristin D Kernohan, David A Dyment
Intellectual disability (ID) affects 1-2% of the general population and up to 50% of those with ID are estimated to have an underlying genetic cause. Next-generation sequencing provides an efficient means to identify the molecular causes of monogenic forms of ID. Here we present an 18 year old male with severe ID, absent speech, microcephaly, ataxia, dysmorphic facial features, and a refractory, early-onset seizure disorder. Exome sequencing revealed a rare de novo mutation in the X-linked gene RPL10 (c.232A > G, p...
October 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#4
Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu, Peter White
BACKGROUND: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/29045167/identification-of-a-novel-de-novo-heterozygous-deletion-in-the-sox10-gene-in-waardenburg-syndrome-type-ii-using-next-generation-sequencing
#5
Haonan Li, Peng Jin, Qian Hao, Wei Zhu, Xia Chen, Ping Wang
OBJECTIVES: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS. METHODS: Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII...
October 18, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29044474/exome-sequencing-identifies-a-novel-nonsense-mutation-of-myo6-as-the-cause-of-deafness-in-a-brazilian-family
#6
Juliana Sampaio-Silva, Ana Carla Batissoco, Rafaela Jesus-Santos, Osório Abath-Neto, Luciano Cesar Scarpelli, Patricia Yoshie Nishimura, Layla Testa Galindo, Ricardo Ferreira Bento, Jeanne Oiticica, Karina Lezirovitz
We investigated 313 unrelated subjects who presented with hearing loss to identify the novel genetic causes of this condition in Brazil. Causative GJB2/GJB6 mutations were found in 12.7% of the patients. Among the familial cases (100/313), four were selected for exome sequencing. In one case, two novel heterozygous variants were found and were predicted to be pathogenic based on bioinformatics tools, that is, p.Ser906* (MYO6) and p.Arg42Cys (GJB3). We confirmed that this nonsense MYO6 mutation segregated with deafness in this family...
October 17, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#7
Kenneth Lim, David Steele, Andrew Fenves, Ravi Thadhani, Eliot Heher, Amel Karaa
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging...
2017: Clin Nephrol Case Stud
https://www.readbyqxmd.com/read/29024829/distal-renal-tubular-acidosis-in-a-libyan-patient-evidence-for-digenic-inheritance
#8
Majdi Nagara, Gregory Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Konstantinos Voskarides, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas, Sonia Abdelhak
AIM OF THE STUDY: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described. Our objective is to identify the mutational spectrum responsible of dRTA in a consanguineous Libyan family...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28971234/a-novel-dominant-col11a1-mutation-in-a-child-with-stickler-syndrome-type-ii-is-associated-with-recurrent-fractures
#9
M G Vogiatzi, D Li, L Tian, J P Garifallou, C E Kim, H Hakonarson, M A Levine
This case describes a child with blindness, recurrent low-impact fractures, low bone mass, and intermittent joint pain who was found to have a novel missense mutation in COL11A1, consistent with Stickler syndrome type II. The case illustrates the phenotypic variability of the syndrome, which may include increased fragility in childhood. INTRODUCTION: Stickler syndrome type II is an autosomal dominant disorder caused by mutations in the gene that encodes the type XI collagen chain α1 (COL11A1)...
October 3, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28967629/mutations-in-aifm1-cause-an-x-linked-childhood-cerebellar-ataxia-partially-responsive-to-riboflavin
#10
G Heimer, E Eyal, X Zhu, E K Ruzzo, D Marek-Yagel, Doron Sagiv, Y Anikster, H Reznik-Wolf, E Pras, D Oz Levi, D Lancet, B Ben-Zeev, A Nissenkorn
BACKGROUND: AIFM1 encodes a mitochondrial flavoprotein with a dual role (NADH oxidoreductase and regulator of apoptosis), which uses riboflavin as a cofactor. Mutations in the X-linked AIFM1 were reported in relation to two main phenotypes: a severe infantile mitochondrial encephalomyopathy and an early-onset axonal sensorimotor neuropathy with hearing loss. In this paper we report two unrelated males harboring AIFM1 mutations (one of which is novel) who display distinct phenotypes including progressive ataxia which partially improved with riboflavin treatment...
September 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28965846/fdxr-mutations-cause-sensorial-neuropathies-and-expand-the-spectrum-of-mitochondrial-fe-s-synthesis-diseases
#11
Antoine Paul, Anthony Drecourt, Floriane Petit, Delphine Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, Laurence Mahieu, Didier Bouccara, Josseline Kaplan, Georges Challe, Christelle Domange, Fanny Mochel, Olivier Sterkers, Sylvie Gerber, Patrick Nitschke, Christine Bole-Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Ben Aissa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin
Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28964305/homozygous-mutations-in-pjvk-and-myo15a-genes-associated-with-non-syndromic-hearing-loss-in-moroccan-families
#12
Sara Salime, Majida Charif, Amale Bousfiha, Soukaina Elrharchi, Amina Bakhchane, Hicham Charoute, Mostafa Kabine, Khalid Snoussi, Guy Lenaers, Abdelhamid Barakat
OBJECTIVES: Autosomal recessive non-syndromic hearing loss is a heterogeneous disorder and the most prevalent human genetic sensorineural defect. In this study, we investigated the geneticcause of sensorineural hearing loss in Moroccan patients and presented the importance of whole exome sequencing (WES) to identify candidate genes in two Moroccan families with profound deafness. METHODS: After excluding mutations previously reported in Moroccan deaf patients, whole exome sequencing was performed and Sanger sequencing was used to validate mutations in these genes...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28964290/novel-pathogenic-variants-underlie-slc26a4-related-hearing-loss-in-a-multiethnic-cohort
#13
Filiz Basak Cengiz, Rasim Yilmazer, Levent Olgun, Levent Sennaroglu, Tayfun Kirazli, Hudaver Alper, Yuksel Olgun, Armagan Incesulu, Tahir Atik, Fabiola Huesca-Hernandez, Juan Domínguez-Aburto, Garly González-Rosado, Edgar Hernandez-Zamora, Maria de la Luz Arenas-Sordo, Ibis Menendez, Kadir Serkan Orhan, Hakan Avci, Nejat Mahdieh, Mortaza Bonyadi, Joseph Foster, Duygu Duman, Ferda Ozkinay, Susan H Blanton, Guney Bademci, Mustafa Tekin
OBJECTIVES: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. METHODS: Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28960803/clinical-report-warsaw-breakage-syndrome-with-small-radii-and-fibulae
#14
Sarah Eppley, Robert J Hopkin, Bryce Mendelsohn, Anne M Slavotinek
We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants-c.1523T>G, predicting (p.Leu508Arg) and c.1949-1G>A (IVS19-1G>A), that were confirmed with Sanger sequencing in both affected individuals. DDX11 encodes an iron-sulfur-containing DNA helicase, and mutations in this gene have been reported in the five WABS cases previously identified to date...
September 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28951997/novel-compound-heterozygous-mutations-in-the-gpr98-ush2c-gene-identified-by-whole-exome-sequencing-in-a-moroccan-deaf-family
#15
Amale Bousfiha, Amina Bakhchane, Hicham Charoute, Mustapha Detsouli, Hassan Rouba, Majida Charif, Guy Lenaers, Abdelhamid Barakat
In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in a Moroccan family with three affected siblings. We identify two novel compound heterozygote mutations (c.1054C > A, c.16544delT) in the GPR98 gene in the three affected siblings carrying post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances...
October 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28945813/identification-of-a-novel-frameshift-mutation-in-the-ildr1-gene-in-a-uae-family-mutations-review-and-phenotype-genotype-correlation
#16
Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou
Autosomal recessive non-syndromic hearing loss is one of the most common monogenic diseases. It is characterized by high allelic and locus heterogeneities that make a precise diagnosis difficult. In this study, whole-exome sequencing was performed for an affected patient allowing us to identify a new frameshift mutation (c.804delG) in the Immunoglobulin-Like Domain containing Receptor-1 (ILDR1) gene. Direct Sanger sequencing and segregation analysis were performed for the family pedigree. The mutation was homozygous in all affected siblings but heterozygous in the normal consanguineous parents...
2017: PloS One
https://www.readbyqxmd.com/read/28944240/novel-compound-heterozygous-mutations-in-telo2-in-a-patient-with-severe-expression-of-you-hoover-fong-syndrome
#17
Shahida Moosa, Janine Altmüller, Troels Lyngbye, Rikke Christensen, Yun Li, Peter Nürnberg, Gökhan Yigit, Ida Vogel, Bernd Wollnik
BACKGROUND: Very recently, compound heterozygous loss-of-function mutations in TELO2 were shown to underlie the newly-described You-Hoover-Fong syndrome. TELO2 forms part of the co-chaperone triple T complex (TTT complex), which plays an important role in the maturation and stabilization of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Patients with mutations in TELO2 present with microcephaly and associated intellectual disability, postnatal growth retardation and dysmorphic features...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#18
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28842795/x-linked-hypomyelination-with-spondylometaphyseal-dysplasia-h-smd-associated-with-mutations-in-aifm1
#19
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A Neubauer, Cas Simons, Adeline Vanderver
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance...
August 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28832386/marfanoid-habitus-is-a-nonspecific-feature-of-perrault-syndrome
#20
Maria Zerkaoui, Leigh A M Demain, Imane Cherkaoui Jaouad, Ilham Ratbi, Karima Amjoud, Jill E Urquhart, James O'Sullivan, William G Newman, Abdelaziz Sefiani
The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis...
August 21, 2017: Clinical Dysmorphology
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