Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
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DOI：
10.1016/j.ejmg.2010.10.004
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发表时间：
2011-03-01
影响因子：
1.9
通讯作者：
Dollfus, Helene
中科院分区：
文献类型：
--
作者：
Schaefer, Elise;Durand, Myriam;Dollfus, Helene
在产前或儿童早期诊断的子宫阴道积水和多指（趾）畸形可能会引起诊断困难，特别是在区分McKusick-Kaufman综合征（MKKS）和Bardet-Biedl综合征（BBS）方面。这两个条件最初可以重叠。随着时间的推移，BBS在儿童时期出现的其他特征，如视网膜色素变性、肥胖、学习障碍和进行性肾功能障碍，使BBS和MKKS之间有了明确的区分。基因型也存在重叠，因为在两种综合征中均发现了MKKS-BBS 6基因的突变。我们报告了7例在新生儿期诊断为子宫阴道积水和多指（趾）畸形的患者，他们携带各种BBS基因（BBS 6，BBS 2，BBS 10，BBS 8和BBS 12）突变，强调了广泛的BBS基因分型在诊断，预后和遗传咨询的临床关联患者中的重要性。(C)2010年Elsevier Masson SAS。All rights reserved.
Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling. (C) 2010 Elsevier Masson SAS. All rights reserved.