A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy

被引:13
作者
Okamoto, N
Toribe, Y
Nakajima, T
Okinaga, T
Kurosawa, K
Nonaka, I
Shimokawa, O
Matsumoto, N
机构
[1] Osaka Med Ctr, Dept Planning & Res, Osaka 5941101, Japan
[2] Res Inst Maternal & Child Hlth, Osaka 5941101, Japan
[3] Osaka Med Ctr, Div Pediat Neurol, Osaka 5941101, Japan
[4] Osaka Med Ctr, Div Pediat Cardiol, Osaka 5941101, Japan
[5] Osaka Univ, Sch Med, Dept Pediat, Osaka 553, Japan
[6] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan
[7] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Ultrastruct Res, Tokyo, Japan
[8] Kyushu Med Sci Nagasaki Lab, Nagasaki, Japan
[9] Nagasaki Univ, Sch Med, Dept Human Genet, Nagasaki 852, Japan
[10] Sci & Technol Corp, CREST, Kawaguchi, Japan
关键词
1p36 deletion syndrome; submicroscopic deletion; congenital fiber type disproportion myopathy; cardiomyopathy; SKI proto-oncogene;
D O I
10.1007/s100380200085
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Chromosome 1p36 deletion syndrome is characterized by hypotonia, moderate to severe developmental and growth retardation, and characteristic craniofacial dysmorphism. Muscle hypotonia and delayed motor development are almost constant features of the syndrome. We report a 4-year-old Japanese girl with 1p36 deletion syndrome whose muscle pathology showed congenital fiber type disproportion (CFTD) myopathy. This is the first case report of 1p36 deletion associated with CFTD. This association may indicate that one of the CFTD loci is located at 1p36. Ski proto-oncogene -/- mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome. Because fluorescent in situ hybridization analysis revealed that the human SKI gene is deleted in our patient, some genes in 1p36, including SKI proto-oncogene, may be involved in muscle hypotonia and delayed motor development in this syndrome.
引用
收藏
页码:556 / 559
页数:4
相关论文
共 20 条
[1]   Cardiac manifestations of congenital fiber-type disproportion myopathy [J].
Banwell, BL ;
Becker, LE ;
Jay, V ;
Taylor, GP ;
Vajsar, J .
JOURNAL OF CHILD NEUROLOGY, 1999, 14 (02) :83-87
[2]  
Bedell J. A., 1996, American Journal of Human Genetics, V59, pA298
[3]   Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial patterning, and skeletal muscle development [J].
Berk, M ;
Desai, SY ;
Heyman, HC ;
Colmenares, C .
GENES & DEVELOPMENT, 1997, 11 (16) :2029-2039
[4]   HISTOGRAPHIC ANALYSIS OF HUMAN MUSCLE BIOPSIES WITH REGARD TO FIBER TYPES .4. CHILDRENS BIOPSIES [J].
BROOKE, MH ;
ENGEL, WK .
NEUROLOGY, 1969, 19 (06) :591-+
[5]   Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice [J].
Colmenares, C ;
Heilstedt, HA ;
Shaffer, LG ;
Schwartz, S ;
Berk, M ;
Murray, JC ;
Stavnezer, E .
NATURE GENETICS, 2002, 30 (01) :106-109
[6]   Defective neuromuscular synaptogenesis in agrin-deficient mutant mice [J].
Gautam, M ;
Noakes, PG ;
Moscoso, L ;
Rupp, F ;
Scheller, RH ;
Merlie, JP ;
Sanes, JR .
CELL, 1996, 85 (04) :525-535
[7]  
GERDES AM, 1994, CLIN GENET, V45, P11
[8]   Loss of the potassium channel β-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome [J].
Heilstedt, HA ;
Burgess, DL ;
Anderson, AE ;
Chedrawi, A ;
Tharp, B ;
Lee, O ;
Kashork, CD ;
Starkey, DE ;
Wu, YQ ;
Noebels, JL ;
Shaffer, LG ;
Shapira, SK .
EPILEPSIA, 2001, 42 (09) :1103-1111
[9]   The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders [J].
Imoto, C ;
Nonaka, I .
BRAIN & DEVELOPMENT, 2001, 23 (05) :298-302
[10]  
JAFFE M, 1988, CLIN GENET, V33, P33