f6a75f6d545c55da3a9a0c9bc85299b3 fgene-10-01087.pdf e5a1ac8ce313c1b8e4ebcc897dfeb217e86232a7 fgene-10-01087.pdf 7114a651851004667b5e33549458bc00ccd60c88f577789953cd784ccecd2fb9 fgene-10-01087.pdf Title: A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report Subject: Non-syndromic hearing loss (NSHL) is a hereditary disorder that affects many populations. Keywords: CLDN14 gene, clinical exome sequencing, nonsense variant, non-syndromic hearing loss, founder effect Author: Walaa Kamal Eldin Mohamed Creator: Adobe InDesign CC 2015 (Windows) Producer: Adobe PDF Library 15.0 CreationDate: Thu Nov 7 04:58:01 2019 CET ModDate: Thu Nov 7 05:47:45 2019 CET Tagged: yes UserProperties: no Suspects: no Form: none JavaScript: no Pages: 7 Encrypted: no Page size: 595.276 x 779.528 pts Page rot: 0 File size: 1219342 bytes Optimized: no PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- HelveticaNeueLTStd-Bd Type 1C Custom yes no yes 781 0 HelveticaNeueLTStd-BdIt Type 1C WinAnsi yes no yes 782 0 HelveticaNeueLTStd-LtIt Type 1C Custom yes no yes 783 0 HelveticaNeueLTStd-MdIt Type 1C WinAnsi yes no yes 795 0 HelveticaNeueLTStd-Lt Type 1C Custom yes no yes 796 0 MinionProMTC-Regular Type 1C Custom yes no yes 801 0 MinionPro-Bold Type 1C Custom yes no yes 808 0 MinionProMTC-Italic Type 1C Custom yes no yes 809 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2021-07-23 02:50:13 CEST RepresentationInformation: fgene-10-01087.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2021-07-22 12:57:12 CEST Size: 1219342 Format: PDF Version: 1.4 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 870 FreeObjects: 717 IncrementalUpdates: 3 DocumentCatalog: ViewerPreferences: HideToolbar: false HideMenubar: false HideWindowUI: false FitWindow: false CenterWindow: false DisplayDocTitle: false NonFullScreenPageMode: UseNone Direction: L2R ViewArea: CropBox ViewClip: CropBox PrintArea: CropBox PageClip: CropBox PageLayout: SinglePage PageMode: UseOutlines Outlines: Item: Title: A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report Children: Item: Title: Background Item: Title: Case Presentation Item: Title: Materials and Methods Children: Item: Title: Sample Collection Item: Title: Clinical Exome Sequencing and Bioinformatics Analysis Item: Title: Sanger Sequencing Item: Title: Variant Screening Using PCR-RFLP Item: Title: Genotyping Item: Title: Results Children: Item: Title: Clinical Exome Sequencing (CES) Analysis Item: Title: Genotyping and Haplotype Analysis Item: Title: Discussion Item: Title: Data Availability Statement Item: Title: Ethics Statement Item: Title: Author Contributions Item: Title: Funding Item: Title: Acknowledgments Item: Title: Supplementary Material Item: Title: References Info: Title: A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report Author: Walaa Kamal Eldin Mohamed Subject: Non-syndromic hearing loss (NSHL) is a hereditary disorder that affects many populations. Keywords: CLDN14 gene, clinical exome sequencing, nonsense variant, non-syndromic hearing loss, founder effect Creator: Adobe InDesign CC 2015 (Windows) Producer: Adobe PDF Library 15.0 CreationDate: Thu Nov 07 04:58:01 CET 2019 ModDate: Thu Nov 07 05:47:45 CET 2019 ID: 0xb91ad063fe2aec459678db6c367c497c, 0x21c5c5101947ab46bf0ad2aca8159d0a Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 1713 ImageHeight: 1506 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Intent: RelativeColorimetric Name: X Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 1594 ImageHeight: 451 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Intent: RelativeColorimetric Name: X Image: NisoImageMetadata: FormatName: image/png ImageWidth: 1535 ImageHeight: 1762 BitsPerSample: 8 BitsPerSampleUnit: integer Filter: FlateDecode Intent: RelativeColorimetric Decode: 0, 255 Name: X Fonts: Type1: Font: BaseFont: MinionProMTC-Regular FirstChar: 0 LastChar: 255 FontDescriptor: FontName: MinionProMTC-Regular Flags: Serif, Nonsymbolic FontBBox: -290, -360, 1684, 989 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: MinionPro-Bold FirstChar: 0 LastChar: 255 FontDescriptor: FontName: MinionPro-Bold Flags: Serif, Nonsymbolic FontBBox: -319, -360, 1684, 1024 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: MinionProMTC-Italic FirstChar: 0 LastChar: 255 FontDescriptor: FontName: MinionProMTC-Italic Flags: Serif, Nonsymbolic FontBBox: -201, -360, 1684, 1002 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-MdIt FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-MdIt Flags: Nonsymbolic, Italic FontBBox: -165, -218, 1125, 947 FontFile3: true Encoding: WinAnsiEncoding ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-Lt FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-Lt Flags: Nonsymbolic FontBBox: -166, -295, 1050, 967 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-Bd FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-Bd Flags: Nonsymbolic FontBBox: -166, -387, 1078, 975 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-BdIt FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-BdIt Flags: Nonsymbolic FontBBox: -166, -393, 1129, 975 FontFile3: true Encoding: WinAnsiEncoding ToUnicode: true Font: BaseFont: HelveticaNeueLTStd-LtIt FirstChar: 0 LastChar: 255 FontDescriptor: FontName: HelveticaNeueLTStd-LtIt Flags: Nonsymbolic FontBBox: -165, -303, 1099, 951 FontFile3: true EncodingDictionary: BaseEncoding: WinAnsiEncoding Differences: true ToUnicode: true XMP: application/pdf A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report Non-syndromic hearing loss (NSHL) is a hereditary disorder that affects many populations. Walaa Kamal Eldin Mohamed Mona Mahfood Abdullah Al Mutery Sallam Hasan Abdallah Abdelaziz Tlili CLDN14 gene clinical exome sequencing nonsense variant non-syndromic hearing loss founder effect 2019-11-07T11:58:01+08:00 2019-11-07T12:47:45+08:00 2019-11-07T12:47:45+08:00 Adobe InDesign CC 2015 (Windows) uuid:fd97a19e-16da-4041-a40f-d063d12dc954 xmp.did:2aecd8bd-cbd3-4539-b083-9de383973cbe xmp.id:64876cec-28d1-8641-8e0d-c12ed4e3d294 proof:pdf xmp.iid:9a1357e4-48c0-be4a-825d-ca57d5a00459 xmp.did:07d0aebd-b6c0-794b-90be-11511ab0493a xmp.did:2aecd8bd-cbd3-4539-b083-9de383973cbe default converted from application/x-indesign to application/pdf Adobe InDesign CC 2015 (Windows) / 2019-11-07T11:58:02+08:00 Adobe PDF Library 15.0 False CLDN14 gene, clinical exome sequencing, nonsense variant, non-syndromic hearing loss, founder effect Pages: Page: Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 84, 423, 160, 412 Annotation: Subtype: Link Rect: 101, 264, 158, 255 Annotation: Subtype: Link Rect: 75, 73, 158, 64 Annotation: Subtype: Link Rect: 175, 649, 459, 621 Annotation: Subtype: Link Rect: 175, 626, 507, 597 Annotation: Subtype: Link Rect: 175, 603, 496, 575 Annotation: Subtype: Link Rect: 175, 580, 415, 552 Annotation: Subtype: Link Rect: 175, 543, 298, 532 Annotation: Subtype: Link Rect: 296, 532, 353, 520 Annotation: Subtype: Link Rect: 242, 231, 306, 219 ActionDest: 49 Annotation: Subtype: Link Rect: 367, 220, 480, 207 ActionDest: 49 Annotation: Subtype: Link Rect: 519, 197, 547, 184 ActionDest: 40 Annotation: Subtype: Link Rect: 175, 185, 260, 173 ActionDest: 40 Annotation: Subtype: Link Rect: 443, 162, 549, 150 Annotation: Subtype: Link Rect: 175, 151, 188, 138 Annotation: Subtype: Link Rect: 311, 128, 475, 115 Annotation: Subtype: Link Rect: 370, 116, 441, 104 ActionDest: 40 Annotation: Subtype: Link Rect: 445, 116, 504, 104 ActionDest: 40 Annotation: Subtype: Link Rect: 43, 755, 135, 719 Annotation: Subtype: Link Rect: 45, 38, 104, 29 Annotation: Subtype: Link Rect: 112, 38, 168, 29 Annotation: Subtype: Link Rect: 416, 39, 551, 30 Annotation: Subtype: Link Rect: 453, 745, 551, 736 Annotation: Subtype: Link Rect: 466, 728, 549, 720 Annotation: Subtype: Link Rect: 453, 737, 551, 728 Annotation: Subtype: Link Rect: 519, 708, 551, 676 Page: Sequence: 2 Annotations: Annotation: Subtype: Link Rect: 104, 708, 179, 695 ActionDest: 49 Annotation: Subtype: Link Rect: 183, 708, 240, 695 ActionDest: 40 Annotation: Subtype: Link Rect: 172, 673, 283, 661 ActionDest: 40 Annotation: Subtype: Link Rect: 96, 616, 162, 603 ActionDest: 49 Annotation: Subtype: Link Rect: 156, 535, 243, 523 ActionDest: 40 Annotation: Subtype: Link Rect: 309, 708, 379, 695 ActionDest: 49 Annotation: Subtype: Link Rect: 421, 685, 474, 672 ActionDest: 49 Annotation: Subtype: Link Rect: 447, 559, 489, 546 ActionDest: 1 Annotation: Subtype: Link Rect: 45, 38, 104, 29 Annotation: Subtype: Link Rect: 112, 38, 168, 29 Annotation: Subtype: Link Rect: 416, 39, 551, 30 Page: Sequence: 3 Annotations: Annotation: Subtype: Link Rect: 233, 720, 267, 707 ActionDest: 1 Annotation: Subtype: Link Rect: 188, 685, 283, 672 ActionDest: 40 Annotation: Subtype: Link Rect: 78, 605, 111, 592 ActionDest: 1 Annotation: Subtype: Link Rect: 130, 605, 225, 592 ActionDest: 40 Annotation: Subtype: Link Rect: 133, 570, 166, 557 ActionDest: 1 Annotation: Subtype: Link Rect: 186, 570, 283, 557 ActionDest: 40 Annotation: Subtype: Link Rect: 187, 513, 283, 500 ActionDest: 40 Annotation: Subtype: Link Rect: 449, 696, 549, 684 Annotation: Subtype: Link Rect: 305, 685, 375, 672 Annotation: Subtype: Link Rect: 451, 685, 549, 672 Annotation: Subtype: Link Rect: 305, 673, 321, 661 Annotation: Subtype: Link Rect: 418, 650, 549, 638 Annotation: Subtype: Link Rect: 305, 639, 377, 626 Annotation: Subtype: Link Rect: 439, 639, 520, 626 Annotation: Subtype: Link Rect: 396, 249, 439, 236 ActionDest: 28 Annotation: Subtype: Link Rect: 456, 237, 547, 224 ActionDest: 40 Annotation: Subtype: Link Rect: 504, 110, 544, 97 ActionDest: 1 Annotation: Subtype: Link Rect: 45, 38, 104, 29 Annotation: Subtype: Link Rect: 112, 38, 168, 29 Annotation: Subtype: Link Rect: 416, 39, 551, 30 Page: Sequence: 4 Annotations: Annotation: Subtype: Link Rect: 147, 674, 176, 661 ActionDest: 16 Annotation: Subtype: Link Rect: 199, 559, 233, 546 ActionDest: 16 Annotation: Subtype: Link Rect: 212, 524, 252, 511 ActionDest: 1 Annotation: Subtype: Link Rect: 205, 449, 235, 436 ActionDest: 16 Annotation: Subtype: Link Rect: 309, 720, 351, 707 ActionDest: 28 Annotation: Subtype: Link Rect: 469, 674, 508, 661 ActionDest: 28 Annotation: Subtype: Link Rect: 368, 598, 439, 586 ActionDest: 49 Annotation: Subtype: Link Rect: 444, 598, 504, 586 ActionDest: 49 Annotation: Subtype: Link Rect: 309, 575, 375, 563 ActionDest: 49 Annotation: Subtype: Link Rect: 379, 484, 472, 471 ActionDest: 40 Annotation: Subtype: Link Rect: 309, 461, 371, 448 ActionDest: 49 Annotation: Subtype: Link Rect: 345, 437, 415, 425 ActionDest: 49 Annotation: Subtype: Link Rect: 419, 437, 486, 425 ActionDest: 40 Annotation: Subtype: Link Rect: 491, 437, 547, 425 ActionDest: 49 Annotation: Subtype: Link Rect: 305, 426, 374, 413 ActionDest: 40 Annotation: Subtype: Link Rect: 379, 426, 448, 413 ActionDest: 40 Annotation: Subtype: Link Rect: 453, 426, 525, 413 ActionDest: 49 Annotation: Subtype: Link Rect: 530, 426, 549, 413 ActionDest: 49 Annotation: Subtype: Link Rect: 305, 415, 346, 402 ActionDest: 49 Annotation: Subtype: Link Rect: 355, 415, 446, 402 ActionDest: 40 Annotation: Subtype: Link Rect: 45, 38, 104, 29 Annotation: Subtype: Link Rect: 112, 38, 168, 29 Annotation: Subtype: Link Rect: 416, 39, 551, 30 Page: Sequence: 5 Annotations: Annotation: Subtype: Link Rect: 232, 225, 288, 212 ActionDest: 49 Annotation: Subtype: Link Rect: 45, 214, 63, 201 ActionDest: 49 Annotation: Subtype: Link Rect: 67, 214, 142, 201 ActionDest: 40 Annotation: Subtype: Link Rect: 146, 214, 199, 201 ActionDest: 49 Annotation: Subtype: Link Rect: 171, 168, 209, 155 ActionDest: 1 Annotation: Subtype: Link Rect: 203, 145, 274, 132 ActionDest: 49 Annotation: Subtype: Link Rect: 254, 76, 288, 63 ActionDest: 40 Annotation: Subtype: Link Rect: 305, 225, 338, 212 ActionDest: 40 Annotation: Subtype: Link Rect: 344, 225, 415, 212 ActionDest: 40 Annotation: Subtype: Link Rect: 487, 145, 549, 132 ActionDest: 40 Annotation: Subtype: Link Rect: 305, 133, 323, 120 ActionDest: 40 Annotation: Subtype: Link Rect: 502, 122, 549, 109 ActionDest: 49 Annotation: Subtype: Link Rect: 305, 110, 323, 97 ActionDest: 49 Annotation: Subtype: Link Rect: 323, 99, 393, 86 ActionDest: 49 Annotation: Subtype: Link Rect: 398, 99, 480, 86 ActionDest: 40 Annotation: Subtype: Link Rect: 520, 76, 549, 63 ActionDest: 40 Annotation: Subtype: Link Rect: 45, 38, 104, 29 Annotation: Subtype: Link Rect: 112, 38, 168, 29 Annotation: Subtype: Link Rect: 416, 39, 551, 30 Page: Sequence: 6 Annotations: Annotation: Subtype: Link Rect: 45, 720, 106, 707 ActionDest: 40 Annotation: Subtype: Link Rect: 241, 696, 288, 684 ActionDest: 49 Annotation: Subtype: Link Rect: 45, 685, 62, 672 ActionDest: 49 Annotation: Subtype: Link Rect: 67, 685, 149, 672 ActionDest: 40 Annotation: Subtype: Link Rect: 154, 685, 230, 672 ActionDest: 40 Annotation: Subtype: Link Rect: 165, 650, 244, 638 ActionDest: 40 Annotation: Subtype: Link Rect: 268, 581, 288, 569 ActionDest: 40 Annotation: Subtype: Link Rect: 45, 570, 88, 557 ActionDest: 40 Annotation: Subtype: Link Rect: 199, 524, 261, 511 ActionDest: 49 Annotation: Subtype: Link Rect: 45, 412, 117, 400 Annotation: Subtype: Link Rect: 305, 358, 549, 346 Annotation: Subtype: Link Rect: 305, 347, 414, 334 Annotation: Subtype: Link Rect: 168, 268, 271, 258 Annotation: Subtype: Link Rect: 186, 249, 272, 239 Annotation: Subtype: Link Rect: 152, 220, 243, 210 Annotation: Subtype: Link Rect: 262, 201, 288, 191 Annotation: Subtype: Link Rect: 55, 192, 94, 182 Annotation: Subtype: Link Rect: 110, 154, 177, 144 Annotation: Subtype: Link Rect: 203, 125, 279, 115 Annotation: Subtype: Link Rect: 169, 87, 233, 77 Annotation: Subtype: Link Rect: 461, 287, 542, 277 Annotation: Subtype: Link Rect: 315, 258, 357, 248 Annotation: Subtype: Link Rect: 523, 220, 549, 210 Annotation: Subtype: Link Rect: 315, 211, 355, 201 Annotation: Subtype: Link Rect: 496, 192, 549, 182 Annotation: Subtype: Link Rect: 315, 163, 417, 153 Annotation: Subtype: Link Rect: 464, 135, 547, 125 Annotation: Subtype: Link Rect: 382, 106, 480, 96 Annotation: Subtype: Link Rect: 45, 38, 104, 29 Annotation: Subtype: Link Rect: 112, 38, 168, 29 Annotation: Subtype: Link Rect: 416, 39, 551, 30 Page: Sequence: 7 Annotations: Annotation: Subtype: Link Rect: 263, 719, 288, 709 Annotation: Subtype: Link Rect: 55, 709, 120, 699 Annotation: Subtype: Link Rect: 68, 671, 133, 661 Annotation: Subtype: Link Rect: 200, 643, 285, 633 Annotation: Subtype: Link Rect: 149, 615, 215, 604 Annotation: Subtype: Link Rect: 134, 596, 242, 585 Annotation: Subtype: Link Rect: 259, 577, 288, 566 Annotation: Subtype: Link Rect: 55, 567, 108, 557 Annotation: Subtype: Link Rect: 55, 529, 132, 519 Annotation: Subtype: Link Rect: 141, 491, 222, 481 Annotation: Subtype: Link Rect: 132, 453, 215, 443 Annotation: Subtype: Link Rect: 97, 415, 180, 405 Annotation: Subtype: Link Rect: 315, 681, 392, 671 Annotation: Subtype: Link Rect: 328, 643, 430, 633 Annotation: Subtype: Link Rect: 523, 615, 549, 604 Annotation: Subtype: Link Rect: 315, 605, 353, 595 Annotation: Subtype: Link Rect: 523, 577, 549, 566 Annotation: Subtype: Link Rect: 315, 567, 389, 557 Annotation: Subtype: Link Rect: 500, 539, 549, 528 Annotation: Subtype: Link Rect: 315, 529, 357, 519 Annotation: Subtype: Link Rect: 459, 463, 549, 452 Annotation: Subtype: Link Rect: 305, 453, 354, 443 Annotation: Subtype: Link Rect: 45, 38, 104, 29 Annotation: Subtype: Link Rect: 112, 38, 168, 29 Annotation: Subtype: Link Rect: 416, 39, 551, 30 Checksum: ef902d80 Type: CRC32 Checksum: f6a75f6d545c55da3a9a0c9bc85299b3 Type: MD5 Checksum: e5a1ac8ce313c1b8e4ebcc897dfeb217e86232a7 Type: SHA-1