Propping P, Friedl W, Wienker T F, Uhlhaas S, Zerres K
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Am J Med Genet. 2000 Jan 17;90(2):179-82.
In 1993, we described an autosomal-dominant syndrome in a German family characterized by ectrodactyly/syndactyly, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (ADULT syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285). In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported. In this family the disease locus was recently mapped to the chromosomal region 3q27 through a genome-wide linkage screen. Given the similarity of manifestations we hypothesized that the two syndromes might be allelic. We genotyped 21 members of the ADULT family with 19 polymorphic markers from the chromosomal region 3q27 and obtained a maximal lod score of 4.82 at straight theta = 0.00 with marker D3S1288. Our results place the ADULT locus to the same chromosomal region where LMS was mapped, suggesting that these two conditions are allelic.
1993年，我们在一个德国家庭中描述了一种常染色体显性综合征，其特征为缺指/并指畸形、指甲发育异常、泪管闭锁、牙发育不全、乳房和乳头发育不全、密集雀斑（成人综合征，肢端-皮肤-指甲-泪腺-牙齿综合征，MIM 103285）。1996年，报道了一个患有常染色体显性综合征（“肢体乳腺综合征”，LMS，MIM *603543）的大型荷兰家庭，其特征为乳腺和乳头发育不全/发育不良、缺指畸形、其他手足异常、泪管闭锁、指甲发育异常、少汗症、腭裂/悬雍垂裂、牙发育不全。在这个家庭中，最近通过全基因组连锁筛查将疾病基因座定位到染色体区域3q27。鉴于临床表现的相似性，我们推测这两种综合征可能是等位基因。我们用来自染色体区域3q27的19个多态性标记对成人综合征家庭的21名成员进行基因分型，在标记D3S1288处，θ值为0.00时获得最大对数优势分数4.82。我们的结果将成人综合征基因座定位到与肢体乳腺综合征相同的染色体区域，表明这两种疾病是等位基因。
