Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review

被引：12

作者：

Ciaccio, Claudia ^{[1
]}

Dordoni, Chiara ^{[1
]}

Ritelli, Marco ^{[1
]}

Colombi, Marina ^{[1
]}

机构：

[1] Univ Brescia, Sch Med, Dept Mol & Translat Med, Div Biol & Genet, Viale Europa 11, IT-25123 Brescia, Italy

来源：

CYTOGENETIC AND GENOME RESEARCH | 2016年 / 150卷 / 01期

关键词：

17q21.31; Deletion; Joint hypermobility; KANSL1; 17Q21.31 MICRODELETION SYNDROME; EHLERS-DANLOS-SYNDROME; MUTATIONS; PHENOTYPE;

D O I：

10.1159/000452724

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking. Here, we report a patient in the fourth decade misdiagnosed in the past as classical Ehlers-Danlos syndrome for the presence of generalized joint hypermobility, who carried a 546-kb deletion in 17q21.31, and compare his phenotype with those of the few KdS adults (aged > 18 years) described so far. We observed a favorable prognosis of epilepsy and cardiovascular signs and reduction of joint hypermobility with age, thus providing insight into the natural history of the disorder. (C) 2016 S. Karger AG, Basel

引用

页码：40 / 45

页数：6

共 12 条

[1]

[Anonymous], 1997, Administration and Scoring Guide, WAIS-III, Wechsler Adult Intelligence Scale

[2]

Beighton P, 1998, AM J MED GENET, V77, P31, DOI 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO

[3]

2-O

[4] Differential Diagnosis and Diagnostic Flow Chart of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type Compared to Other Heritable Connective Tissue Disorders [J].

Colombi, Marina ;

Dordoni, Chiara ;

Chiarelli, Nicola ;

Ritelli, Marco .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2015, 169 (01) :6-22

[5]

Jones K.L., 2013, Smith's Recognizable Patterns of Human Malformation

[6] A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism [J].

Koolen, David A. ;

Vissers, Lisenka E. L. M. ;

Pfundt, Rolph ;

de Leeuw, Nicole ;

Knight, Samantha J. L. ;

Regan, Regina ;

Kooy, R. Frank ;

Reyniers, Edwin ;

Romano, Corrado ;

Fichera, Marco ;

Schinzel, Albert ;

Baumer, Alessandra ;

Anderlid, Britt-Marie ;

Schoumans, Jacqueline ;

Knoers, Nine V. ;

van Kessel, Ad Geurts ;

Sistermans, Erik A. ;

Veltman, Joris A. ;

Brunner, Han G. ;

de Vries, Bert B. A. .

NATURE GENETICS, 2006, 38 (09) :999-1001

[7] The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant [J].

Koolen, David A. ;

Pfundt, Rolph ;

Linda, Katrin ;

Beunders, Gea ;

Veenstra-Knol, Hermine E. ;

Conta, Jessie H. ;

Fortuna, Ana Maria ;

Gillessen-Kaesbach, Gabriele ;

Dugan, Sarah ;

Halbach, Sara ;

Abdul-Rahman, Omar A. ;

Winesett, Heather M. ;

Chung, Wendy K. ;

Dalton, Marguerite ;

Dimova, Petia S. ;

Mattina, Teresa ;

Prescott, Katrina ;

Zhang, Hui Z. ;

Saal, Howard M. ;

Hehir-Kwa, Jayne Y. ;

Willemsen, Marjolein H. ;

Ockeloen, Charlotte W. ;

Jongmans, Marjolijn C. ;

Van der Aa, Nathalie ;

Failla, Pinella ;

Barone, Concetta ;

Avola, Emanuela ;

Brooks, Alice S. ;

Kant, Sarina G. ;

Gerkes, Erica H. ;

Firth, Helen V. ;

Ounap, Katrin ;

Bird, Lynne M. ;

Masser-Frye, Diane ;

Friedman, Jennifer R. ;

Sokunbi, Modupe A. ;

Dixit, Abhijit ;

Splitt, Miranda ;

Kukolich, Mary K. ;

McGaughran, Julie ;

Coe, Bradley P. ;

Florez, Jesus ;

Kasri, Nael Nadif ;

Brunner, Han G. ;

Thompson, Elizabeth M. ;

Gecz, Jozef ;

Romano, Corrado ;

Eichler, Evan E. ;

de Vries, Bert B. A. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (05) :652-659

[8] Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations [J].

Ritelli, Marco ;

Dordoni, Chiara ;

Venturini, Marina ;

Chiarelli, Nicola ;

Quinzani, Stefano ;

Traversa, Michele ;

Zoppi, Nicoletta ;

Vascellaro, Annalisa ;

Wischmeijer, Anita ;

Manfredini, Emanuela ;

Garavelli, Livia ;

Calzavara-Pinton, Piergiacomo ;

Colombi, Marina .

ORPHANET JOURNAL OF RARE DISEASES, 2013, 8

[9] Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome [J].

Tan, T. Y. ;

Aftimos, S. ;

Worgan, L. ;

Susman, R. ;

Wilson, M. ;

Ghedia, S. ;

Kirk, E. P. ;

Love, D. ;

Ronan, A. ;

Darmanian, A. ;

Slavotinek, A. ;

Hogue, J. ;

Moeschler, J. B. ;

Ozmore, J. ;

Widmer, R. ;

Savarirayan, R. ;

Peters, G. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (07) :480-489

[10] A further contribution to the delineation of the 17q21.31 microdeletion syndrome: Central nervous involvement in two Italian patients [J].

Terrone, Gaetano ;

D'Amico, Alessandra ;

Imperati, Floriana ;

Carella, Massimo ;

Palumbo, Orazio ;

Gentile, Mattia ;

Canani, Roberto Berni ;

Melis, Daniela ;

Romano, Alfonso ;

Parente, Iolanda ;

Riccitelli, Marina ;

Del Giudice, Ennio .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (8-9) :466-471

← 1 2 →