Service de Génétique Médicale, CHU, Clermont-Ferrand, CHU Estaing, F-63000, France.
Cytogénétique Médicale, CHU Clermont-Ferrand, CHU Estaing, F-63000, France.
Eur J Med Genet. 2021 Sep;64(9):104287. doi: 10.1016/j.ejmg.2021.104287. Epub 2021 Jul 9.
The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear.
We report two new cases of 860 kb deletion of 10q26.2 identified by array CGH in a fetus with intrauterine growth retardation and his mother. The deleted region encompassed only four coding genes, DOCK1, INSYN2, NPS and FOX12. The proband had dysmorphic facies characterized by a high forehead, malformed ears, a prominent nose, and retrognathia. He had bilateral club feet, clinodactily and mild psychomotor retardation. His mother had a short stature, microcephaly, a long face with a high forehead and bitemporal narrowing, arched and sparse eyebrows, strabismus, prominent nose and chin, a thin upper lip and large protruding ears, and mild intellectual disability.
This study presents the smallest 10q26.2 deletion so far identified, which further refines the minimal critical region associated with the 10q26 microdeletion syndrome. It focuses on three genes potentially responsible for the phenotype: DOCK1, which is the major candidate gene, and INSYN2 and NPS, which could be involved in cognitive functions.
10q26 端粒下微缺失综合征是一种罕见且临床表现多样的疾病。目前尚不清楚致病基因与表型之间的确切关系。
我们报道了两例新的胎儿宫内生长受限及其母亲的 10q26.2 区域 860kb 缺失病例，该缺失由 array CGH 检测到。缺失区域仅包含四个编码基因：DOCK1、INSYN2、NPS 和 FOX12。先证者存在典型的颅面畸形，包括高额头、耳部畸形、大鼻子和小下颌。他还患有双侧马蹄内翻足、并指和轻度精神运动发育迟缓。其母亲身材矮小、小头畸形、长脸伴高额头和颞部狭窄、拱形稀疏眉毛、斜视、大鼻子和下巴、薄上唇和大而突出的耳朵，以及轻度智力障碍。
本研究报道了迄今为止最小的 10q26.2 缺失，进一步精确定位了与 10q26 微缺失综合征相关的最小关键区域。该研究重点关注三个可能导致表型的基因：DOCK1 是主要候选基因，而 INSYN2 和 NPS 可能参与认知功能。
