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- 2018
无汗型外胚叶发育不全伴乳头发育不良家系遗传特点和表型分析
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Abstract:
摘要 目的: 分析无汗型外胚叶发育不全(HED)伴乳头发育不良家系的遗传方式和表型特点。方法: 通过先证者收集法,收集HED伴乳头发育不良家系,详细体格检查确定患者表型。结果: 本研究收集到1个HED伴乳头发育不良家系,家系2名患者均为男性,表现为无汗、严重的先天缺牙(甚至无牙)、指甲发育不良伴弯曲、皮肤淀粉样变性和乳头发育不良等症状;家系女性成员无上述异常。家系遗传方式排除X连锁隐性遗传。结论: 本研究收集的HED伴乳头发育不良家系症状明显
| [1] | Chassaing N, Bourthoumieu S, Cossee M, et al. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia [J] . Hum Mutat, 2006, 27(3)∶255-259 |
| [2] | Nieminen P. Genetic basis of tooth agenesis [J] . J Exp Zool B Mol Dev Evol, 2009, 312B(4)∶320-342 |
| [3] | Yin W, Bian Z. The gene network underlying hypodontia [J] . J Dent Res, 2015, 94(7)∶878-885 |
| [4] | Itin PH. Etiology and pathogenesis of ectodermal dysplasias [J] . Am J Med Genet A, 2014,164A(10)∶2472-2477 |
| [5] | Propping P, Zerres K. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia [J] . Am J Med Genet, 1993, 45(5)∶642-648 |
| [6] | Slavotinek AM, Tanaka J, Winder A, et al. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63 [J] . Am J Med Genet A, 2005, 138A(2)∶146-149 |
| [7] | Yin W, Ye X, Bian Z. The second deletion mutation in exon 8 of EDA gene in XLHED pedigree [J] . Dermatology, 2013, 226(2)∶105-110 |
| [8] | Hutchinson J. Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six [J] . Med Chir Trans, 1886, 69∶473-477 |
| [9] | Tuffli GA, Laxova R. Brief clinical report: new, autosomal dominant form of ectodermal dysplasia [J] . Am J Med Genet, 1983, 14(2)∶381-384 |
| [10] | Alcón Saez JJ, Elía Martínez MA, Elía Martínez I, et al. Amastia and athelia as an exceptional presentation of hypohydrotic ectodermal dysplasia in an adolescent female [J] . An Pediatr (Barc), 2008, 69(3)∶289-290 |
| [11] | Caouette-Laberge L, Borsuk D. Congenital anomalies of the breast [J] . Semin Plast Surg,2013,27(1)∶36-41 |
| [12] | Burck U, Held KR. Athelia in a female infant-heterozygous for anhidrotic ectodermal dysplasia [J] . Clin Genet, 1981, 19(2)∶117-121 |
