特纳综合征是由一个NONO基因变异复杂化
Andrew Kanouse1, Parissa Salemi1
1Division of Diabetes and Endocrinology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, NY 11042, USA.
JCEM case reports
|May 19, 2025
概括
本案例研究描述了一个患有特纳综合征和NONO基因变异的女孩,表现出超出特有的特纳综合征特征的症状. 它强调评估这些患者的X相关疾病,以更好地管理.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 非POU域含有八合体结合 (NONO) 相关的X相关智力障碍综合征 (NAXIS) 是一种罕见的X相关疾病,通常影响男性.
- 特纳综合征 (TS) 是一种影响女性的染色体状况,其特点是特定的身体特征和发育差异.
研究的目的:
- 报告一个罕见的特纳综合征女性患者病例,该病例呈现出暗示NAXIS的非典型症状.
- 为了确定患者复杂表型的遗传基础.
主要方法:
- 一个患有特纳综合征和不寻常症状的患者的临床评估.
- 整体外基因组测序以识别遗传变异.
- 对NAXIS和TS的现有文献的审查.
主要成果:
- 一名患有45X/46,X,r(X) 马赛克 (特纳综合征) 的女性患者表现出TS的特征以及严重的非典型症状.
- 整体外体序列测定确定了NONO基因中可能存在的致病变体.
- 这一遗传发现解释了患者的意外和严重的临床表现.
结论:
- 这一案例扩大了NONO基因变异的已知表型谱,包括受影响的特纳综合征女性.
- 强调在具有非典型或严重症状的TS个体中考虑X相关疾病的重要性.
- 遗传评估可以帮助诊断,管理和遗传咨询受影响的家庭.
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