PDF(Pubmed)
Abstract：
UNASSIGNED: To our knowledge, there are few examples of intrafamilial variability involving two different TP63-linked morphopathies within a same family. Here, we describe a Mexican family in which the son had ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3), and his father acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome, both heterozygous for the p.Arg266Gln pathogenic variant in TP63. Additionally, we reviewed the clinical information reported for this TP63 genotype.
UNASSIGNED: The son of this family presented ectodermal defects (thin and sparse hair, mild nail dysplasia), tetramelic ectrodactyly, syndactyly, and nasolacrimal duct obstruction (NLDO), indicative of an EEC3 diagnosis. His father, however, exhibited severe NLDO, facial freckling, dental abnormalities, mild nail dysplasia, and a history of micturition problems, compatible with ADULT syndrome. Both were heterozygous for the NM_003722.5(TP63):c.797G>A (p.Arg266Gln) pathogenic variant in TP63.
UNASSIGNED: This report expands the spectrum of intrafamilial variability confirming that this can include the expression of distinct types of TP63-related disorders among different members of the same family, whose implications should be also considered in genetic counseling. From our review, we observed that p.Arg266Gln variant seems to correlate particularly with the presence of NLDO, sparse hair/eyebrows, ridged/dystrophic nails, anodontia/hypodontia, and micturition difficulties, as well as for a minor frequency of cleft lip/cleft palate.
UNASSIGNED: The son of this family presented ectodermal defects (thin and sparse hair, mild nail dysplasia), tetramelic ectrodactyly, syndactyly, and nasolacrimal duct obstruction (NLDO), indicative of an EEC3 diagnosis. His father, however, exhibited severe NLDO, facial freckling, dental abnormalities, mild nail dysplasia, and a history of micturition problems, compatible with ADULT syndrome. Both were heterozygous for the NM_003722.5(TP63):c.797G>A (p.Arg266Gln) pathogenic variant in TP63.
UNASSIGNED: This report expands the spectrum of intrafamilial variability confirming that this can include the expression of distinct types of TP63-related disorders among different members of the same family, whose implications should be also considered in genetic counseling. From our review, we observed that p.Arg266Gln variant seems to correlate particularly with the presence of NLDO, sparse hair/eyebrows, ridged/dystrophic nails, anodontia/hypodontia, and micturition difficulties, as well as for a minor frequency of cleft lip/cleft palate.
摘要：
■据我们所知，很少有涉及同一家族中两种不同TP63连锁形态病变的家族内变异性的例子。这里,我们描述了一个墨西哥家庭，在这个家庭中，儿子患有异位，外胚层发育不良,唇腭裂综合征3（EEC3），和他的父亲acro-dermato-ugual-lamal-tooth（成人）综合征，两者都是TP63中p.Arg266Gln致病变体的杂合子。此外,我们回顾了TP63基因型的临床资料.
■这个家庭的儿子表现出外胚层缺陷（稀疏的头发，轻度指甲发育不良），四链异位，齐体,和鼻泪管阻塞（NLDO），指示EEC3诊断。他的父亲,然而,表现出严重的NLDO，面部雀斑,牙齿异常,轻度指甲发育不良,还有排尿问题的历史,与成人综合征相容。对于NM_003722.5（TP63），两者都是杂合的：c.797G>A（p。Arg266Gln)在TP63中的致病性变异。
■本报告扩展了家族内变异性的范围，证实这可能包括同一家族不同成员中不同类型的TP63相关疾病的表达，在遗传咨询中也应考虑其影响。从我们的审查来看,我们观察到p.Arg266Gln变体似乎与NLDO的存在特别相关，稀疏的头发/眉毛，脊状/营养不良的指甲，牙牙缺失/牙髓缺失,和排尿困难，以及唇裂/腭裂的轻微频率。
■这个家庭的儿子表现出外胚层缺陷（稀疏的头发，轻度指甲发育不良），四链异位，齐体,和鼻泪管阻塞（NLDO），指示EEC3诊断。他的父亲,然而,表现出严重的NLDO，面部雀斑,牙齿异常,轻度指甲发育不良,还有排尿问题的历史,与成人综合征相容。对于NM_003722.5（TP63），两者都是杂合的：c.797G>A（p。Arg266Gln)在TP63中的致病性变异。
■本报告扩展了家族内变异性的范围，证实这可能包括同一家族不同成员中不同类型的TP63相关疾病的表达，在遗传咨询中也应考虑其影响。从我们的审查来看,我们观察到p.Arg266Gln变体似乎与NLDO的存在特别相关，稀疏的头发/眉毛，脊状/营养不良的指甲，牙牙缺失/牙髓缺失,和排尿困难，以及唇裂/腭裂的轻微频率。
