Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome

被引：4

作者：

Athanasakis, E. ^{[1
]}

Fabretto, A. ^{[1
]}

Faletra, F. ^{[1
]}

Mocenigo, M. ^{[2
]}

Morgan, A. ^{[2
]}

Gasparini, P. ^{[1
,2
]}

机构：

[1] Inst Maternal & Child Hlth, IRCCS Burlo Garofolo, Trieste, Italy

[2] Univ Trieste, Dept Med Sci, Trieste, Italy

来源：

MOLECULAR SYNDROMOLOGY | 2012年 / 3卷 / 01期

关键词：

COH1; Cohen syndrome; Mutation; Splicing;

D O I：

10.1159/000338816

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cohen syndrome (CS) is an autosomal recessive disease caused by mutations in the COH1 gene. It is characterized by intellectual disability, hypotonia, joint hyperlaxity, severe myopia, characteristic facial dysmorphisms and, in some cases, intermittent isolated neutropenia. We investigated an Italian patient with CS together with his family. Genetic analysis disclosed 2 novel mutations: the first is an intronic mutation (c. 8697-9A 1 G) creating a new splice site 8 nucleo tides upstream, and the second is a duplication of 1 base (c. 10156dupA) generating a premature stop codon. The compound heterozygous mutations explain the proband's phenotype and improved the knowledge of genotype-phenotype correlation. Copyright (C) 2012 S. Karger AG, Basel

引用

页码：30 / 33

页数：4

共 10 条

[1] Human Splicing Finder: an online bioinformatics tool to predict splicing signals [J].

Desmet, Francois-Olivier ;

Hamroun, Dalil ;

Lalande, Marine ;

Collod-Beroud, Gwenaelle ;

Claustres, Mireille ;

Beroud, Christophe .

NUCLEIC ACIDS RESEARCH, 2009, 37 (09)

[2] Clinical variability of genetic isolates of Cohen syndrome [J].

Douzgou, S. ;

Petersen, M. B. .

CLINICAL GENETICS, 2011, 79 (06) :501-506

[3] Clinical and molecular characterization of Italian patients affected by Cohen syndrome [J].

Katzaki, Eleni ;

Pescucci, Chiara ;

Uliana, Vera ;

Papa, Filomena Tiziana ;

Ariani, Francesca ;

Meloni, Ilaria ;

Priolo, Manuela ;

Selicorni, Angelo ;

Milani, Donatella ;

Fischetto, Rita ;

Celle, Maria Elena ;

Grasso, Rita ;

Dallapiccola, Bruno ;

Brancati, Francesco ;

Bordignon, Marta ;

Tenconi, Romano ;

Federico, Antonio ;

Mari, Francesca ;

Renieri, Alessandra ;

Longo, Ilaria .

JOURNAL OF HUMAN GENETICS, 2007, 52 (12) :1011-1017

[4]

Kivitie-Kallio S, 2001, AM J MED GENET, V102, P125, DOI 10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO

[5]

2-0

[6] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen [J].

Kolehmainen, J ;

Wilkinson, R ;

Lehesjoki, AE ;

Chandler, K ;

Kivitie-Kallio, S ;

Clayton-Smith, J ;

Träskelin, AL ;

Waris, L ;

Saarinen, A ;

Khan, J ;

Gross-Tsur, V ;

Traboulsi, EI ;

Warburg, M ;

Fryns, JP ;

Norio, R ;

Black, GCM ;

Manson, FDC .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (01) :122-127

[7] Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport [J].

Kolehmainen, J ;

Black, GCM ;

Saarinen, A ;

Chandler, K ;

Clayton-Smith, J ;

Träskelin, AL ;

Perveen, R ;

Kivitie-Kallio, S ;

Norio, R ;

Warburg, M ;

Fryns, JP ;

de la Chapelle, A ;

Lehesjoki, AE .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (06) :1359-1369

[8] High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome [J].

Parri, Veronica ;

Katzaki, Eleni ;

Uliana, Vera ;

Scionti, Francesca ;

Tita, Rossella ;

Artuso, Rosangela ;

Longo, Ilaria ;

Boschloo, Renske ;

Vijzelaar, Raymon ;

Selicorni, Angelo ;

Brancati, Francesco ;

Dallapiccola, Bruno ;

Zelante, Leopoldo ;

Hamel, Christian P. ;

Sarda, Pierre ;

Lalani, Seema R. ;

Grasso, Rita ;

Buoni, Sabrina ;

Hayek, Joussef ;

Servais, Laurent ;

de Vries, Bert B. A. ;

Georgoudi, Nelly ;

Nakou, Sheena ;

Petersen, Michael B. ;

Mari, Francesca ;

Renieri, Alessandra ;

Ariani, Francesca .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (10) :1133-1140

[9] Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity [J].

Seifert, Wenke ;

Kuehnisch, Jirko ;

Maritzen, Tanja ;

Horn, Denise ;

Haucke, Volker ;

Hennies, Hans Christian .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (43) :37665-37675

[10] Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1 [J].

Seifert, Wenke ;

Holder-Espinasse, Muriel ;

Kuehnisch, Jirko ;

Kahrizi, Kimia ;

Tzschach, Andreas ;

Garshasbi, Masoud ;

Najmabadi, Hossein ;

Kuss, Andreas Walter ;

Kress, Wolfram ;

Laureys, Genevieve ;

Loeys, Bart ;

Brilstra, Eva ;

Mancini, Grazia M. S. ;

Dollfus, Helene ;

Dahan, Karin ;

Apse, Kira ;

Hennies, Hans Christian ;

Horn, Denise .

HUMAN MUTATION, 2009, 30 (02) :E404-E420

← 1 →