Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome

被引：7

作者：

Atli, Engin ^{[1
]}

Gurkan, Hakan ^{[1
]}

Ulusal, Selma ^{[1
]}

Karal, Yasemin ^{[2
]}

Atli, Emine I. ^{[1
]}

Tozkir, Hilmi ^{[1
]}

机构：

[1] Trakya Univ, Fac Med, Dept Med Genet, TR-22030 Edirne, Turkey

[2] Trakya Univ, Fac Med, Dept Pediat, Edirne, Turkey

来源：

CLINICAL DYSMORPHOLOGY | 2018年 / 27卷 / 01期

关键词：

MENTAL-RETARDATION; DEAFNESS;

D O I：

10.1097/MCD.0000000000000204

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：1 / 3

页数：3

共 10 条

[1] TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features [J].

Balestrini, Simona ;

Milh, Mathieu ;

Castiglioni, Claudia ;

Luethy, Kevin ;

Finelli, Mattea J. ;

Verstreken, Patrik ;

Cardon, Aaron ;

Strazisar, Barbara Gnidovec ;

Holder, J. Lloyd ;

Lesca, Gaetan ;

Mancardi, Maria M. ;

Poulat, Anne L. ;

Repetto, Gabriela M. ;

Banka, Siddharth ;

Bilo, Leonilda ;

Birkeland, Laura E. ;

Bosch, Friedrich ;

Brockmann, Knut ;

Cross, J. Helen ;

Doummar, Diane ;

Felix, Temis M. ;

Giuliano, Fabienne ;

Hori, Mutsuki ;

Huening, Irina ;

Kayserili, Hulia ;

Kini, Usha ;

Lees, Melissa M. ;

Meenakshi, Girish ;

Mewasingh, Leena ;

Pagnamenta, Alistair T. ;

Peluso, Silvio ;

Mey, Antje ;

Rice, Gregory M. ;

Rosenfeld, Jill A. ;

Taylor, Jenny C. ;

Troester, Matthew M. ;

Stanley, Christine M. ;

Ville, Dorothee ;

Walkiewicz, Magdalena ;

Falace, Antonio ;

Fassio, Anna ;

Lemke, Johannes R. ;

Biskup, Saskia ;

Tardif, Jessica ;

Ajeawung, Norbert F. ;

Tolun, Aslihan ;

Corbett, Mark ;

Gecz, Jozef ;

Afawi, Zaid ;

Howell, Katherine B. .

NEUROLOGY, 2016, 87 (01) :77-85

[2] DOORS Syndrome: Phenotype, Genotype and Comparison With Coffin-Siris Syndrome [J].

Campeau, Philippe M. ;

Hennekam, Raoul C. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2014, 166 (03) :327-332

[3] The genetic basis of DOORS syndrome: an exome-sequencing study [J].

Campeau, Philippe M. ;

Kasperaviciute, Dalia ;

Lu, James T. ;

Burrage, Lindsay C. ;

Kim, Choel ;

Hori, Mutsuki ;

Powell, Berkley R. ;

Stewart, Fiona ;

Felix, Temis Maria ;

van den Ende, Jenneke ;

Wisniewska, Marzena ;

Kayserili, Huelya ;

Rump, Patrick ;

Nampoothiri, Sheela ;

Aftimos, Salim ;

Mey, Antje ;

Nair, Lal D. V. ;

Begleiter, Michael L. ;

De Bie, Isabelle ;

Meenakshi, Girish ;

Murray, Mitzi L. ;

Repetto, Gabriela M. ;

Golabi, Mahin ;

Blair, Edward ;

Male, Alison ;

Giuliano, Fabienne ;

Kariminejad, Ariana ;

Newman, William G. ;

Bhaskar, Sanjeev S. ;

Dickerson, Jonathan E. ;

Kerr, Bronwyn ;

Banka, Siddharth ;

Giltay, Jacques C. ;

Wieczorek, Dagmar ;

Tostevin, Anna ;

Wiszniewska, Joanna ;

Cheung, Sau Wai ;

Hennekam, Raoul C. ;

Gibbs, Richard A. ;

Lee, Brendan H. ;

Sisodiya, Sanjay M. .

LANCET NEUROLOGY, 2014, 13 (01) :44-58

[4]

CANTWELL RJ, 1975, HUMANGENETIK, V26, P261

[5] TBC1D24 truncating mutation resulting in severe neurodegeneration [J].

Guven, Ayse ;

Tolun, Aslihan .

JOURNAL OF MEDICAL GENETICS, 2013, 50 (03) :199-202

[6] DOOR syndrome: Clinical report, literature review and discussion of natural history [J].

James, Aaron W. ;

Miranda, Suzette G. ;

Culver, Kathy ;

Hall, Bryan D. ;

Golabi, Mahin .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (23) :2821-2831

[7] ABNORMAL DISTAL PHALANGES AND NAILS, DEAFNESS, MENTAL-RETARDATION, AND SEIZURE DISORDER - A NEW FAMILIAL SYNDROME [J].

QAZI, QH ;

NANGIA, BS .

JOURNAL OF PEDIATRICS, 1984, 104 (03) :391-394

[8] Serum Chromium Levels in Type 2 Diabetic Patients and Its Association with Glycaemic Control [J].

Rajendran, Kannan ;

Manikandan, Senthil ;

Nair, Lal Devayanivaasudevan ;

Karuthodiyil, Rajendran ;

Vijayarajan, Nikhilan ;

Gnanasekar, Rajiv ;

Kapil, Vivian V. ;

Mohamed, Azeem S. .

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2015, 9 (11) :OC05-OC08

[9] Unresolved questions regarding human hereditary deafness [J].

Rehman, A. U. ;

Friedman, T. B. ;

Griffith, A. J. .

ORAL DISEASES, 2017, 23 (05) :551-558

[10] A new case of DOOR syndrome [J].

Wisniewska, Marzena ;

Siwinska, Zofia ;

Felczak, Michal ;

Wielkoszynski, Tomasz ;

Krawczynski, Maciej ;

Latos-Bielenska, Anna .

JOURNAL OF APPLIED GENETICS, 2008, 49 (01) :101-103

← 1 →