Publication date: Available online 14 February 2018
Source:International Journal of Pediatric Otorhinolaryngology
Author(s): Khushnooda Ramzan, Mohammed Al-Owain, Rozeena Huma, Selwa A.F. Al-Hazzaa, Sarah Al-Ageel, Faiqa Imtiaz, Moeenaldeen Al-Sayed
Next generation sequencing (NGS), such as targeted panel sequencing, whole-exome sequencing and whole-genome sequencing has led to an exponential increase of elucidated genetic causes in both rare diseases, and common but heterogeneous disorders. NGS is applied in both research and clinical settings, and the clinical exome sequencing (CES), which provides not only the sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to a genetic diagnosis.Usher syndrome is a group of disorders, characterized by bilateral sensorineural hearing loss, with or without vestibular dysfunction and retinitis pigmentosa. The index patient, a 2-year-old child was initially diagnosed with nonsyndromic hearing impairment. Homozygosity mapping followed by CES was utilized as a diagnostic tool to identify the genetic basis of his hearing loss. A paternally inherited novel insertion, c.198_199insA (p.Val67Serfs*73) and a maternally inherited novel deletion, c.1219_1226del (p.Phe407Aspfs*33) in gene MYO7A were found in compound heterozygous state in the index patient. The result expands the mutational spectrum of MYO7A. In addition it helped in early diagnosis of the syndrome, for planning and adjustments for the patient, and as well as for future family planning. This study highlights the clinical effectiveness of CES for Usher syndrome diagnosis in a child presented with congenital hearing loss.
http://ift.tt/2Eu22Wo
Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com
Αρχειοθήκη ιστολογίου
-
►
2023
(391)
- ► Φεβρουαρίου (200)
- ► Ιανουαρίου (191)
-
►
2022
(2843)
- ► Δεκεμβρίου (161)
- ► Σεπτεμβρίου (219)
- ► Φεβρουαρίου (264)
- ► Ιανουαρίου (280)
-
►
2021
(5625)
- ► Δεκεμβρίου (231)
- ► Σεπτεμβρίου (345)
- ► Φεβρουαρίου (620)
-
►
2020
(2065)
- ► Δεκεμβρίου (535)
- ► Σεπτεμβρίου (222)
- ► Φεβρουαρίου (28)
-
►
2019
(9608)
- ► Δεκεμβρίου (19)
- ► Σεπτεμβρίου (54)
- ► Φεβρουαρίου (3791)
- ► Ιανουαρίου (3737)
-
▼
2018
(69720)
- ► Δεκεμβρίου (3507)
- ► Σεπτεμβρίου (3851)
-
▼
Φεβρουαρίου
(8116)
-
▼
Φεβ 14
(383)
- Editorial Board
- Detecting Structural and Inflammatory Response aft...
- Mucuna pruriens (L.) DC chemo sensitize human brea...
- Bu Shen Yi Sui capsule promotes remyelination corr...
- Anti-nociceptive effect of methanol extract of lea...
- Breast cancer amelioration by Butea monosperma in-...
- Concurrent use of Chinese herbal medicine among ho...
- Table of contents
- Masthead
- Open Access: Is There a Predator at the Door?
- A common brain network among state, trait, and pat...
- Spatial coherence of oriented white matter microst...
- Spontaneous activity forms a foundation for odor-e...
- Improved estimation of subject-level functional co...
- Cooperation makes two less-creative individuals tu...
- Rule activation and ventromedial prefrontal engage...
- Neural correlates of novelty and appropriateness p...
- Errors can elicit an error positivity in the absen...
- The dynamics of human cognition: Increasing global...
- Differences in steady-state glutamate levels and v...
- Quantification of anisotropy and orientation in 3D...
- Vascular reactivity in small cerebral perforating ...
- Motivational effects on the processing of delayed ...
- Impacts of simultaneous multislice acquisition on ...
- Somatosensory BOLD fMRI reveals close link between...
- Protection against summer solar lentigo over-pigme...
- Hyperglycemia and risk of adverse outcomes followi...
- Saturation reduces in-vitro leakage of monomers fr...
- Targeting RORs nuclear receptors by novel syntheti...
- Pharmacophore Requirements for HIV-1 Reverse Trans...
- Novel 4-aminoquinazoline derivatives induce growth...
- Investigation of multi-target-directed ligands (MT...
- Synthesis of 3-aza[4.4.3]propellanes with high σ1 ...
- VEGFR-2 as a novel predictor of survival in gastri...
- Loss of p27kip1 expression is associated with poor...
- Prognostic significance of epithelial-mesenchymal ...
- Clinicopathological analysis of Large Cell Lung Ca...
- MiR-1260b promotes the migration and invasion in n...
- The expression patterns of vestigial like family m...
- Dipeptidyl peptidase-4 inhibitor-associated bullou...
- Efficacy of low-dose 5-fluorouracil/cisplatin ther...
- Successful treatment of chronic intractable pain w...
- Pyogenic granuloma-like Kaposi's sarcoma on the fi...
- Cabozantinib in Patients with Advanced Merkel Cell...
- Evaluation of Treatment Patterns and Survival Outc...
- The Perils of Single‐Site Genetic Testing for Here...
- Pantoprazole, an Inhibitor of the Organic Cation T...
- A Curative‐Intent Trimodality Approach for Isolate...
- Panobinostat and Multiple Myeloma in 2018
- Incidence of venous thromboembolism and use of ant...
- Seltene Differentialdiagnose einseitiger, frontote...
- Skalenübergreifende Auswertung des Fragebogens zur...
- Critical role of Zn/Sn ratio to enhance Cu-Zn-Sn-S...
- Effects of mine tailing and mixed contamination on...
- Decreased short-interval intracortical inhibition ...
- Age and HIV effects on resting state of the brain ...
- Reversal of drug-induced gingival overgrowth by UV...
- The Meckel Collections (Die Meckelschen Sammlungen...
- Diversion of complement-mediated killing by Bordet...
- Reliability and construct validity of the Ottawa v...
- Bilateral Piriform sinus fistulas: a case study an...
- Plant Growth Promoting Bacteria as an Alternative ...
- Transcriptional and epigenetic regulation of innat...
- Chemical sensing in development and function of in...
- Rethinking Phagocytes: Clues from the Retina and T...
- CYP27A1 acts on the pre-vitamin D3 photoproduct, l...
- Usefulness of reconstructed 3D images for cochlear...
- Comparative proteomic analysis of the maize respon...
- Patient Derived Xenografts (PDX) for personalized ...
- Eczema’s Big Break in Hollywood
- Cutaneous Diphtheria Mimicking Pyoderma Gangrenosum
- Standardized Screening for Depression and Suicidal...
- Diameter of Skin Lesions With and Without a Ruler
- Colors Beyond the Visible
- Trends in Medical Liability Claims Against Dermato...
- Herpes Zoster Rates in a Large Cohort of Patients ...
- Fluorouracil for Prevention of Keratinocyte Carcinoma
- Tumor Classifications in 7th and 8th Editions of A...
- Harvey, Irma, and Maria—The Dermatologic Risks of ...
- Digital Photographic Assessment of Acne Vulgaris U...
- February 2018 Issue Highlights
- Treatment for Livedoid Vasculopathy
- Firefighter Skin Cancer and Sun Protection Practices
- Nongenital Molluscum Contagiosum in Persons Withou...
- The beneficial role of exercise in mitigating doxo...
- Brain response to food cues varying in portion siz...
- Eating with eyes – Comparing eye movements and foo...
- Editorial Board
- Prevalence and clinical presentation at the onset ...
- Outcomes of mitochondrial derived diseases: a sing...
- New ADCY3 Variants Dance in Obesity Etiology
- Beyond thrombosis: Anti-β2GPI domain 1 antibodies ...
- TGF-β signalling defect is linked to low CD39 expr...
- Sialic Acid Binding Immunoglobulin-Like Lectin-1 m...
- RAI Ablation Has Decreased for Low-Risk Thyroid Ca...
- Patient Age Is Associated with Papillary Thyroid C...
- Surgeon-Performed Ultrasound Is Important in the P...
- Current ATA Thyroid Cancer Guidelines Are Poor Pre...
- Does a Patient with a Normal FT4 but a TSH of 7 or...
- Levothyroxine May Decrease the Risk of Miscarriage...
-
▼
Φεβ 14
(383)
- ► Ιανουαρίου (7758)
-
►
2017
(111579)
- ► Δεκεμβρίου (7718)
- ► Σεπτεμβρίου (7549)
- ► Φεβρουαρίου (10753)
- ► Ιανουαρίου (10529)
-
►
2016
(16402)
- ► Δεκεμβρίου (7478)
- ► Φεβρουαρίου (900)
- ► Ιανουαρίου (1250)
! # Ola via Alexandros G.Sfakianakis on Inoreader
Η λίστα ιστολογίων μου
Τετάρτη 14 Φεβρουαρίου 2018
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
Αρχειοθήκη ιστολογίου
-
►
2023
(391)
- ► Φεβρουαρίου (200)
- ► Ιανουαρίου (191)
-
►
2022
(2843)
- ► Δεκεμβρίου (161)
- ► Σεπτεμβρίου (219)
- ► Φεβρουαρίου (264)
- ► Ιανουαρίου (280)
-
►
2021
(5625)
- ► Δεκεμβρίου (231)
- ► Σεπτεμβρίου (345)
- ► Φεβρουαρίου (620)
-
►
2020
(2065)
- ► Δεκεμβρίου (535)
- ► Σεπτεμβρίου (222)
- ► Φεβρουαρίου (28)
-
►
2019
(9608)
- ► Δεκεμβρίου (19)
- ► Σεπτεμβρίου (54)
- ► Φεβρουαρίου (3791)
- ► Ιανουαρίου (3737)
-
▼
2018
(69720)
- ► Δεκεμβρίου (3507)
- ► Σεπτεμβρίου (3851)
-
▼
Φεβρουαρίου
(8116)
-
▼
Φεβ 14
(383)
- Editorial Board
- Detecting Structural and Inflammatory Response aft...
- Mucuna pruriens (L.) DC chemo sensitize human brea...
- Bu Shen Yi Sui capsule promotes remyelination corr...
- Anti-nociceptive effect of methanol extract of lea...
- Breast cancer amelioration by Butea monosperma in-...
- Concurrent use of Chinese herbal medicine among ho...
- Table of contents
- Masthead
- Open Access: Is There a Predator at the Door?
- A common brain network among state, trait, and pat...
- Spatial coherence of oriented white matter microst...
- Spontaneous activity forms a foundation for odor-e...
- Improved estimation of subject-level functional co...
- Cooperation makes two less-creative individuals tu...
- Rule activation and ventromedial prefrontal engage...
- Neural correlates of novelty and appropriateness p...
- Errors can elicit an error positivity in the absen...
- The dynamics of human cognition: Increasing global...
- Differences in steady-state glutamate levels and v...
- Quantification of anisotropy and orientation in 3D...
- Vascular reactivity in small cerebral perforating ...
- Motivational effects on the processing of delayed ...
- Impacts of simultaneous multislice acquisition on ...
- Somatosensory BOLD fMRI reveals close link between...
- Protection against summer solar lentigo over-pigme...
- Hyperglycemia and risk of adverse outcomes followi...
- Saturation reduces in-vitro leakage of monomers fr...
- Targeting RORs nuclear receptors by novel syntheti...
- Pharmacophore Requirements for HIV-1 Reverse Trans...
- Novel 4-aminoquinazoline derivatives induce growth...
- Investigation of multi-target-directed ligands (MT...
- Synthesis of 3-aza[4.4.3]propellanes with high σ1 ...
- VEGFR-2 as a novel predictor of survival in gastri...
- Loss of p27kip1 expression is associated with poor...
- Prognostic significance of epithelial-mesenchymal ...
- Clinicopathological analysis of Large Cell Lung Ca...
- MiR-1260b promotes the migration and invasion in n...
- The expression patterns of vestigial like family m...
- Dipeptidyl peptidase-4 inhibitor-associated bullou...
- Efficacy of low-dose 5-fluorouracil/cisplatin ther...
- Successful treatment of chronic intractable pain w...
- Pyogenic granuloma-like Kaposi's sarcoma on the fi...
- Cabozantinib in Patients with Advanced Merkel Cell...
- Evaluation of Treatment Patterns and Survival Outc...
- The Perils of Single‐Site Genetic Testing for Here...
- Pantoprazole, an Inhibitor of the Organic Cation T...
- A Curative‐Intent Trimodality Approach for Isolate...
- Panobinostat and Multiple Myeloma in 2018
- Incidence of venous thromboembolism and use of ant...
- Seltene Differentialdiagnose einseitiger, frontote...
- Skalenübergreifende Auswertung des Fragebogens zur...
- Critical role of Zn/Sn ratio to enhance Cu-Zn-Sn-S...
- Effects of mine tailing and mixed contamination on...
- Decreased short-interval intracortical inhibition ...
- Age and HIV effects on resting state of the brain ...
- Reversal of drug-induced gingival overgrowth by UV...
- The Meckel Collections (Die Meckelschen Sammlungen...
- Diversion of complement-mediated killing by Bordet...
- Reliability and construct validity of the Ottawa v...
- Bilateral Piriform sinus fistulas: a case study an...
- Plant Growth Promoting Bacteria as an Alternative ...
- Transcriptional and epigenetic regulation of innat...
- Chemical sensing in development and function of in...
- Rethinking Phagocytes: Clues from the Retina and T...
- CYP27A1 acts on the pre-vitamin D3 photoproduct, l...
- Usefulness of reconstructed 3D images for cochlear...
- Comparative proteomic analysis of the maize respon...
- Patient Derived Xenografts (PDX) for personalized ...
- Eczema’s Big Break in Hollywood
- Cutaneous Diphtheria Mimicking Pyoderma Gangrenosum
- Standardized Screening for Depression and Suicidal...
- Diameter of Skin Lesions With and Without a Ruler
- Colors Beyond the Visible
- Trends in Medical Liability Claims Against Dermato...
- Herpes Zoster Rates in a Large Cohort of Patients ...
- Fluorouracil for Prevention of Keratinocyte Carcinoma
- Tumor Classifications in 7th and 8th Editions of A...
- Harvey, Irma, and Maria—The Dermatologic Risks of ...
- Digital Photographic Assessment of Acne Vulgaris U...
- February 2018 Issue Highlights
- Treatment for Livedoid Vasculopathy
- Firefighter Skin Cancer and Sun Protection Practices
- Nongenital Molluscum Contagiosum in Persons Withou...
- The beneficial role of exercise in mitigating doxo...
- Brain response to food cues varying in portion siz...
- Eating with eyes – Comparing eye movements and foo...
- Editorial Board
- Prevalence and clinical presentation at the onset ...
- Outcomes of mitochondrial derived diseases: a sing...
- New ADCY3 Variants Dance in Obesity Etiology
- Beyond thrombosis: Anti-β2GPI domain 1 antibodies ...
- TGF-β signalling defect is linked to low CD39 expr...
- Sialic Acid Binding Immunoglobulin-Like Lectin-1 m...
- RAI Ablation Has Decreased for Low-Risk Thyroid Ca...
- Patient Age Is Associated with Papillary Thyroid C...
- Surgeon-Performed Ultrasound Is Important in the P...
- Current ATA Thyroid Cancer Guidelines Are Poor Pre...
- Does a Patient with a Normal FT4 but a TSH of 7 or...
- Levothyroxine May Decrease the Risk of Miscarriage...
-
▼
Φεβ 14
(383)
- ► Ιανουαρίου (7758)
-
►
2017
(111579)
- ► Δεκεμβρίου (7718)
- ► Σεπτεμβρίου (7549)
- ► Φεβρουαρίου (10753)
- ► Ιανουαρίου (10529)
-
►
2016
(16402)
- ► Δεκεμβρίου (7478)
- ► Φεβρουαρίου (900)
- ► Ιανουαρίου (1250)
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου