Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
Mio Matsumoto , Momoko Oyake , Tomoyo Itonaga , Miwako Maeda , Soichi Suenobu , Daichi Sato , Yoji Sasahara , Hiroyuki Mishima , Koh-Ichiro Yoshiura , Kenji Ihara
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引用次数: 0

Abstract

ADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which are often overlooked, particularly in patients with milder symptoms. Here, we describe the clinical course of a girl with a wide spectrum of clinical presentations, including nonspecific hematopoietic disorders, growth retardation, mild developmental delay, amblyopia, hemophagocytic lymphohistiocytosis, and verruca vulgaris, culminating in a genetic diagnosis of AMeD syndrome at 12 years of age. We also summarized the clinical manifestations of previously reported cases of AMeD syndrome. Cumulatively, 13 females and 5 males have been documented, with a cardinal triad of symptoms, aplastic anemia, short stature, and intellectual disability. Additional characteristic observations included pigmentary deposition in approximately half of the cases and skeletal difficulties in one-quarter. We propose that early diagnosis of patients who exhibit relatively mild phenotypes of skin or skeletal lesions is important for managing and improving the quality of life of patients with AMeD syndrome.

儿童期 ADH5/ALDH2 缺乏症的特征性表型
ADH5/ALDH2 缺乏症是一种罕见的遗传综合征,以身材矮小、小头畸形、智力发育迟缓和造血功能障碍为特征,最近被提出作为一种疾病范例。急性和严重的表现包括再生障碍性贫血、骨髓增生异常综合征或白血病,需要在儿童时期进行骨髓移植。与此相反,非血液学表现可能会表现出长期和非特异性的临床轨迹,伴有生长发育障碍和发育迟缓,其中大部分往往被忽视,尤其是症状较轻的患者。在此,我们描述了一名女孩的临床病程,该女孩具有多种临床表现,包括非特异性造血障碍、生长迟缓、轻度发育迟缓、弱视、嗜血细胞淋巴组织细胞增多症和寻常疣,最终在 12 岁时被遗传学诊断为 AMeD 综合征。我们还总结了之前报道的 AMeD 综合征病例的临床表现。累计记录了 13 例女性和 5 例男性病例,其主要症状为再生障碍性贫血、身材矮小和智力障碍。其他特征还包括约半数病例出现色素沉着,四分之一病例出现骨骼发育障碍。我们认为,对皮肤或骨骼病变表型相对较轻的患者进行早期诊断,对于管理和改善 AMeD 综合征患者的生活质量非常重要。
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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