Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome
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DOI：
10.1136/jmg.39.11.838
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发表时间：
2002-11
影响因子：
4
通讯作者：
C. Lagier-Tourenne;D. Chaigne;J. Gong;J. Flori;M. Mohr;D. Ruh;D. Christmann;J. Flament;J. Mandel;M. Koenig;H. Dollfus
中科院分区：
文献类型：
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作者：
C. Lagier-Tourenne;D. Chaigne;J. Gong;J. Flori;M. Mohr;D. Ruh;D. Christmann;J. Flament;J. Mandel;M. Koenig;H. Dollfus
Marinesco-Sjogren综合征（MSS）（MIM 248800）是一种常染色体隐性遗传疾病，其特征是白内障、共济失调、生长和智力迟钝。慢性肌病是一个共同的特点。周围神经病变和急性横纹肌溶解症在MSS中偶尔会被描述。到目前为止，还没有定位它的基因。先天性白内障-面部畸形-神经病变综合征（CCFDN）（MIM 604168）是一种最近描述的常染色体隐性遗传疾病，1迄今为止仅在来自保加利亚的特定吉普赛人群中描述。该疾病通过连锁分析定位于18 qter，端粒标记D18 S1141。2 CCFDN等位基因在D18 S1141-D18 S70-D18 S1268区域显示高度保守的单倍型，与遗传同质性和单个创始者突变一致。从那时起，疾病位点已减少到位于标记D18 S1095和D18 S1390之间的区间。3，4 MSS和CCFDN具有共同的临床特征，并被认为是鉴别诊断。最近，Merlini等4提出，CCFDN综合征和MSS的一种亚型（Marinesco-Sjogren/肌红蛋白尿症）（也仅在吉普赛患者中描述）在遗传上是相同的。我们在这里报告的临床和连锁分析的一个吉普赛家庭和一个土耳其家庭中，患者先天性或青少年白内障和共济失调。两个家庭最初都被诊断为MSS。然而，我们的研究表明，它们在临床和遗传上是不同的。我们发现吉普赛家庭有CCFDN特征，与18 qter有关，而土耳其家庭有典型的MSS特征，与18 qter无关。在这里，我们确认CCFDN和MS综合征之间的临床重叠，并表明它们是不同的遗传实体。#家庭1土耳其裔的一名姐妹（患者1）和一名兄弟（患者2）因发育不良、精神发育迟缓、严重共济失调和张力减退被转诊至神经儿科诊所。他们是第四个和第五个孩子的健康，血亲父母（图...
The Marinesco-Sjogren syndrome (MSS) (MIM 248800) is an autosomal recessive condition characterised by cataracts, ataxia, and growth and mental retardation. Chronic myopathy is a common feature. Peripheral neuropathy and acute rhabdomyolysis have been described occasionally in MSS. To date, no gene for it has been localised. Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN) (MIM 604168) is a recently delineated autosomal recessive condition,1 so far only described in a specific gypsy group originating from Bulgaria. This disorder was localised by linkage analysis to 18qter, telomeric to the marker D18S1141.2 CCFDN alleles showed a highly conserved haplotype in the region D18S1141-D18S70-D18S1268 consistent with genetic homogeneity and a single founder mutation. Since then, the disease locus has been reduced to the interval located between markers D18S1095 and D18S1390.3,4 MSS and CCFDN share common clinical features and are considered to be differential diagnoses. Recently, Merlini et al 4 proposed that the CCFDN syndrome and one subtype of MSS (Marinesco-Sjogren/myoglobinuria), also only described in gypsy patients, are genetically identical. We report here the clinical and linkage analysis of one gypsy family and one Turkish family in which patients presented with congenital or juvenile cataracts and ataxia. Both families were initially diagnosed as MSS. However, our study shows that they are clinically and genetically distinct. We found that the gypsy family had CCFDN features and was linked to 18qter whereas the Turkish family had typical MSS features and was not linked to 18qter. Here, we confirm the clinical overlap between the CCFDN and MS syndromes and show that they are distinct genetic entities. ### Family 1 A sister (patient 1) and a brother (patient 2) of Turkish origin were referred to the neuropaediatric clinic because of failure to thrive, psychomotor delay, major ataxia, and hypotonia. They were the fourth and fifth children of healthy, consanguineous parents (fig …