A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

被引:17
作者
Habib, Rabia [1 ]
Basit, Sulman [1 ]
Khan, Saadullah [1 ]
Khan, Muhammad Nasim [1 ]
Ahmad, Wasim [1 ]
机构
[1] Quaid I Azam Univ, Dept Biochem, Fac Biol Sci, Islamabad, Pakistan
关键词
Woodhouse-Sakati syndrome; C2orf37; Splice site mutation; DIABETES-MELLITUS; MENTAL-RETARDATION; NUCLEOLAR PROTEIN; ALOPECIA; HYPOGONADISM; SPECTRUM; DEAFNESS;
D O I
10.1016/j.gene.2011.09.002
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, deafness, diabetes mellitus and progressive extrapyramidal defects. Mutations in the gene C2orf37 are the cause of Woodhouse-Sakati syndrome. In the present study, a four-generation consanguineous family with clinical manifestations of WSS was ascertained from a remote region of Pakistan. Linkage in the family was tested using microsatellite markers linked to several genes involved in producing WSS related phenotypes. Linkage in the family was established to the gene C2orf37, mapped on chromosome 2q22.3-2q35. DNA sequence analysis revealed a novel splice site mutation involving a homozygous G -> A transition in the splice donor site of intron 3 (c.321 + 1 G>A) of C2orj37. This study presents a first report of Woodhouse-Sakati syndrome identified in Pakistani population. (C) 2011 Elsevier B.V. All rights reserved.
引用
收藏
页码:26 / 31
页数:6
相关论文
共 18 条
[1]   Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1 [J].
Al-Semari, Abdulaziz ;
Bohlega, Saeed .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (02) :149-160
[2]   Woodhouse Sakati syndrome associated with bilateral keratoconus [J].
Al-Swailem, SA ;
Al-Assiri, AA ;
Al-Torbak, AA .
BRITISH JOURNAL OF OPHTHALMOLOGY, 2006, 90 (01) :116-117
[3]   C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients [J].
Alazami, A. M. ;
Schneider, S. A. ;
Bonneau, D. ;
Pasquier, L. ;
Carecchio, M. ;
Kojovic, M. ;
Steindl, K. ;
de Kerdanet, M. ;
Nezarati, M. M. ;
Bhatia, K. P. ;
Degos, B. ;
Goh, E. ;
Alkuraya, F. S. .
CLINICAL GENETICS, 2010, 78 (06) :585-590
[4]   Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome [J].
Alazami, Anas M. ;
Al-Saif, Amr ;
Al-Semari, Abdulaziz ;
Bohlega, Saeed ;
Zlitni, Soumaya ;
Alzahrani, Fatema ;
Bavi, Prashant ;
Kaya, Namik ;
Colak, Dilek ;
Khalak, Hanif ;
Baltus, Andy ;
Peterlin, Borut ;
Danda, Sumita ;
Bhatia, Kailash P. ;
Schneider, Susanne A. ;
Sakati, Nadia ;
Walsh, Christopher A. ;
Al-Mohanna, Futwan ;
Meyer, Brian ;
Alkuraya, Fowzan S. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (06) :684-691
[5]  
[Anonymous], Mendelian Inheritance in Man, oMIM
[6]  
[Anonymous], BASIC LOCAL ALIGNMEN
[7]   The multifunctional nucleolus [J].
Boisvert, Francois-Michel ;
van Koningsbruggen, Silvana ;
Navascues, Joaquin ;
Lamond, Angus I. .
NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2007, 8 (07) :574-585
[8]   Allegro version 2 [J].
Gudbjartsson, DF ;
Thorvaldsson, T ;
Kong, A ;
Gunnarsson, G ;
Ingolfsdottir, A .
NATURE GENETICS, 2005, 37 (10) :1015-1016
[9]  
KRAWCZAK M, 1992, HUM GENET, V90, P41
[10]   A second-generation combined linkage-physical map of the human genome [J].
Matise, Tara C. ;
Chen, Fang ;
Chen, Wenwei ;
De la Vega, Francisco M. ;
Hansen, Mark ;
He, Chunsheng ;
Hyland, Fiona C. L. ;
Kennedy, Giulia C. ;
Kong, Xiangyang ;
Murray, Sarah S. ;
Ziegle, Janet S. ;
Stewart, William C. L. ;
Buyske, Steven .
GENOME RESEARCH, 2007, 17 (12) :1783-1786