A brother and sister with intellectual disability and characteristic neuroimaging findings

被引：10

作者：

Hermens, Marjolein ^{[1
,2
]}

van der Knaap, Marjo S. ^{[3
]}

Kamsteeg, Erik-Jan ^{[4
]}

Willemsen, Michel A. ^{[1
,2
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Neurol Paediat Neurol, Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Amalia Childrens Hosp, Donders Ctr Brain Cognit & Behav, Nijmegen, Netherlands

[3] Vrije Univ Amsterdam, Med Ctr, Dept Pediat Child Neurol, Amsterdam Neurosci, Amsterdam, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Ctr Brain Cognit & Behav, Nijmegen, Netherlands

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2018年 / 22卷 / 05期

关键词：

Leukodystrophy; Ribosomopathy; Developmental disorders; Genetics; CEREBRAL MICROANGIOPATHY; BRAIN CALCIFICATIONS; CYSTS; LEUKOENCEPHALOPATHY; MUTATIONS; SNORD118; DISORDER;

D O I：

10.1016/j.ejpn.2018.06.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Leukoencephalopathy with brain calcifications and cysts (LCC) is a genetic white matter disorder, which involves the brain small blood vessels. In the absence of extra-neurological symptoms, LCC has a pathognomonic radiological phenotype. Recently, biallelic mutations in the SNORD118 gene, which is a non-protein coding gene, were discovered to cause LCC. We present here two siblings with developmental delay and a typical MRI pattern, who were diagnosed with LCC. The mutations in the SNORD118 gene were initially missed with whole exome sequencing (VIES), but recognition of the MRI patterns of both children raised the suspicion of LCC and led to a genetically proven diagnosis after re-evaluation of the WES data. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

引用

页码：866 / 869

页数：4

共 8 条

[1] WHITE MATTER INVOLVEMENT IN A FAMILY WITH A NOVEL PDGFB MUTATION [J].

Biancheri, Roberta ;

Severino, Mariasavina ;

Robbiano, Angela ;

Iacomino, Michele ;

Del Sette, Massimo ;

Minetti, Carlo ;

Cervasio, Mariarosaria ;

De Caro, Marialaura Del Basso ;

Striano, Pasquale ;

Zara, Federico .

NEUROLOGY-GENETICS, 2016, 2 (03)

[2] Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts [J].

Iwama, Kazuhiro ;

Mizuguchi, Takeshi ;

Takanashi, Jun-ichi ;

Shibayama, Hidehiro ;

Shichiji, Minobu ;

Ito, Susumu ;

Oguni, Hirokazu ;

Yamamoto, Toshiyuki ;

Sekine, Akiko ;

Nagamine, Shun ;

Ikeda, Yoshio ;

Nishida, Hiroya ;

Kumada, Satoko ;

Yoshida, Takeshi ;

Awaya, Tomonari ;

Tanaka, Ryuta ;

Chikuchi, Ryo ;

Niwa, Hisayoshi ;

Oka, Yu-ichi ;

Miyatake, Satoko ;

Nakashima, Mitsuko ;

Takata, Atsushi ;

Miyake, Noriko ;

Ito, Shuichi ;

Saitsu, Hirotomo ;

Matsumoto, Naomichi .

CLINICAL GENETICS, 2017, 92 (02) :180-187

[3] Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts [J].

Jenkinson, Emma M. ;

Rodero, Mathieu P. ;

Kasher, Paul R. ;

Uggenti, Carolina ;

Oojageer, Anthony ;

Goosey, Laurence C. ;

Rose, Yoann ;

Kershaw, Christopher J. ;

Urquhart, Jill E. ;

Williams, Simon G. ;

Bhaskar, Sanjeev S. ;

O'Sullivan, James ;

Baerlocher, Gabriela M. ;

Haubitz, Monika ;

Aubert, Geraldine ;

Baranano, Kristin W. ;

Barnicoat, Angela J. ;

Battini, Roberta ;

Berger, Andrea ;

Blair, Edward M. ;

Brunstrom-Hernandez, Janice E. ;

Buckard, Johannes A. ;

Cassiman, David M. ;

Caumes, Rosaline ;

Cordelli, Duccio M. ;

De Waele, Liesbeth M. ;

Fay, Alexander J. ;

Ferreira, Patrick ;

Fletcher, Nicholas A. ;

Fryer, Alan E. ;

Goel, Himanshu ;

Hemingway, Cheryl A. ;

Henneke, Marco ;

Hughes, Imelda ;

Jefferson, Rosalind J. ;

Kumar, Ram ;

Lagae, Lieven ;

Landrieu, Pierre G. ;

Lourenco, Charles M. ;

Malpas, Timothy J. ;

Mehta, Sarju G. ;

Metz, Imke ;

Naidu, Sakkubai ;

Ounap, Katrin ;

Panzer, Axel ;

Prabhakar, Prab ;

Quaghebeur, Gerardine ;

Schiffmann, Raphael ;

Sherr, Elliott H. ;

Sinnathuray, Kanaga R. .

NATURE GENETICS, 2016, 48 (10) :1185-1192

[4] Extensive brain calcifications leukodystrophy, and formation of parenchymal cysts: A new progressive disorder due to diffuse cerebral microangiopathy [J].

Labrune, P ;

Lacroix, C ;

Goutieres, F ;

deLaveaucoupet, J ;

Chevalier, P ;

Zerah, M ;

Husson, B ;

Landrieu, P .

NEUROLOGY, 1996, 46 (05) :1297-1301

[5] Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118 [J].

Livingston, John H. ;

Crow, Yanick J. .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 372 :443-443

[6] Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus [J].

Livingston, John H. ;

Mayer, Josephine ;

Jenkinson, Emma ;

Kasher, Paul ;

Stivaros, Stavros ;

Berger, Andrea ;

Cordelli, Duccio M. ;

Ferreira, Patrick ;

Jefferson, Rosalind ;

Kutschke, Georg ;

Lundberg, Staffan ;

Ounap, Katrin ;

Prabhakar, Prab ;

Soh, Calvin ;

Stewart, Helen ;

Stone, Jon ;

van der Knaap, Marjo S. ;

van Esch, Hilda ;

van Mol, Christine ;

Wakeling, Emma ;

Whitney, Andrea ;

Rice, Gillian I. ;

Crow, Yanick J. .

NEUROPEDIATRICS, 2014, 45 (03) :175-182

[7] DISRUPTION OF U8 NUCLEOLAR SNRNA INHIBITS 5.8S AND 28S RIBOSOMAL-RNA PROCESSING IN THE XENOPUS-OOCYTE [J].

PECULIS, BA ;

STEITZ, JA .

CELL, 1993, 73 (06) :1233-1245

[8] Marrow failure: a window into ribosome biology [J].

Ruggero, Davide ;

Shimamura, Akiko .

BLOOD, 2014, 124 (18) :2784-2792

← 1 →