Barone Pritchard Amanda, Ritter Alyssa, Kearney Hutton M, Izumi Kosuke
Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.
Mol Syndromol. 2020 Jan;10(6):327-331. doi: 10.1159/000505279. Epub 2019 Dec 21.
Interstitial and terminal deletions of chromosome 4q have been described for many years and have variable phenotypes depending on the size of the deletion present. Clinical features can include developmental delay, growth difficulty, digital differences, dysmorphic features, and cardiac anomalies. Here, we present an infant with pseudohypoaldosteronism found to have a deletion of 4q31.21q31.23, including Heterozygous mutations in have been reported to cause autosomal dominant pseudohypoaldosteronism type 1 (PHA1A). This represents a rare case of PHA1A due to a contiguous interstitial deletion and highlights the importance of evaluating patients with overlapping deletions for PHA1A.
4号染色体q臂的间质缺失和末端缺失已经被描述多年，其表型因缺失片段的大小而异。临床特征可包括发育迟缓、生长困难、手指差异、畸形特征和心脏异常。在此，我们报告一名患有假性醛固酮减少症的婴儿，发现其4q31.21q31.23区域存在缺失，包括据报道，[此处原文缺失相关基因名称]中的杂合突变可导致常染色体显性1型假性醛固酮减少症（PHA1A）。这是一例因连续性间质缺失导致的罕见PHA1A病例，突出了对具有重叠缺失的患者评估PHA1A的重要性。
