Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.
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DOI：
10.1186/1750-1172-9-46
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发表时间：
2014-04-01
影响因子：
3.7
通讯作者：
Seeman P
中科院分区：
文献类型：
--
作者：
Lassuthova P;Sišková D;Haberlová J;Sakmaryová I;Filouš A;Seeman P
先天性白内障面部畸形和脱髓鞘神经病(CCFDN，OMIM 604468)是一种常染色体隐性遗传性多系统疾病，于1999年在保加利亚吉普赛人中首次发现。它是由CTDP1基因中 + 389C >； T的纯合创始人突变所致。这种综合征只在吉普赛血统的患者中被描述过。这种疾病在捷克共和国和中欧吉普赛人中的流行情况尚不清楚，可能被低估和诊断不足。我们对10名居住在捷克共和国的CCFDN儿童进行了临床诊断和评估。所有患者都是不同年龄的儿童，都是出生在捷克共和国的吉普赛人。对方正CTDP1基因突变进行分子遗传学检测。所有患者均为CTDP1C.863 + 389C >； T突变纯合子。所有患者均表现为双眼先天性白内障和小眼球，并进行了早期白内障手术。直到两岁时才做出正确的诊断。所有患者都有不同程度的运动里程碑延迟。所有患者的步态都是典型的古小脑步态。精神发育迟缓是可变的，通常是轻微的。对于见多识广的儿科医生或神经科医生来说，先天性双眼白内障、发育迟缓和后来的脱髓鞘神经病是诊断CCFDN的有效方法。我们的数据表明，在捷克吉普赛人亚群中，CCFDN的患病率可能很高。
Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed. We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. All patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild. Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation.
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影响因子：
9.8
作者：
Morar, B;Gresham, D;Kalaydjieva, L
通讯作者：
Kalaydjieva, L
影响因子：
13.7
作者：
Müllner-Eidenböck, A;Moser, E;Kalaydjieva, L
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Kalaydjieva, L
影响因子：
3.6
作者：
Mastroyianni, Sotiria D.;Garoufi, Anastasia;Kalaydjieva, Luba
通讯作者：
Kalaydjieva, Luba
影响因子：
6.3
作者：
Hajioff, S;McKee, M
通讯作者：
McKee, M
影响因子：
--
作者：
Kalaydjieva L;Gresham D;Calafell F
通讯作者：
Calafell F