Houdayer C, Portnoï M F, Vialard F, Soupre V, Crumière C, Taillemite J L, Couderc R, Vazquez M P, Bahuau M
Laboratoire de Biochimie et Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.
Am J Med Genet. 2001 Aug 15;102(3):219-26. doi: 10.1002/ajmg.1448.
Pierre Robin sequence (PRS) consists of the nonrandom association of micrognathia, cleft palate (CP), and glossoptosis. It also includes respiratory and feeding difficulties that appear to be neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS, and the rare observations of familial nonsyndromic PRS, in which some of the affected individuals have isolated CP. We report the association of PRS with deletion 2q32.3-q33.2 due to an unbalanced reciprocal translocation 46,XX, t(2;21), del 2(q32.3q33.2), and we refine the deletion interval with regard to YAC probes and polymorphic DNA markers. The deletion was shown to be flanked by D2S369 (telomeric) and D2S315 (centromeric), thus it maps to a recently determined chromosomal region known to be nonrandomly associated with CP. This observation supports the hypothesis for the genetic bases of nonsyndromic PRS, strengthens its possible genetic association with isolated CP, and provides a candidate PRS locus, in chromosomal region 2q32.3-q33.2.
皮埃尔·罗宾序列（PRS）由小颌畸形、腭裂（CP）和舌后坠的非随机关联组成。它还包括呼吸和喂养困难，其病因似乎是神经性而非机械性的。基于伴有PRS的孟德尔综合征的存在以及对家族性非综合征性PRS的罕见观察（其中一些受影响个体患有孤立性CP），遗传决定因素被认为是这种功能和形态实体的基础。我们报告了由于不平衡相互易位46,XX,t(2;21),del 2(q32.3q33.2)导致的PRS与2q32.3 - q33.2缺失的关联，并利用酵母人工染色体（YAC）探针和多态性DNA标记细化了缺失区间。结果显示该缺失以D2S369（端粒）和D2S315（着丝粒）为侧翼，因此它定位于一个最近确定的已知与CP非随机关联的染色体区域。这一观察结果支持了非综合征性PRS遗传基础的假说，加强了其与孤立性CP可能的遗传关联，并在染色体区域2q32.3 - q33.2提供了一个候选的PRS基因座。
