Rare Diseases and Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Clin Genet. 2022 Aug;102(2):142-148. doi: 10.1111/cge.14150. Epub 2022 May 21.
This study aimed to widen the knowledge of a recently identified, autosomal-recessive, multiple congenital anomalies syndrome to date observed in only other three children. This is the second report of biallelic mutations in MAPKAPK5 whose impairment during human development has been associated with neurological, cardiac, and facial anomalies combined with fingers and toes malformations. Through the affected patients' genetic and phenotypic features overlap, this report confirms MAPKAPK5 as causative gene and adds unique neurodevelopmental characterization. Moreover, based on the complex congenital genitourinary anomalies reported and MAPKAPK5 literature review, we also propose kidney and external genitalia involvement as a key syndromic feature whose expressivity may be more severe in males.
本研究旨在增加对一种最近确定的常染色体隐性多系统先天异常综合征的认识，迄今为止，仅在其他三个儿童中观察到这种综合征。这是第二个报道 MAPKAPK5 双等位基因突变的病例，人类发育过程中该基因突变与神经、心脏和面部异常有关，同时伴有手指和脚趾畸形。通过受影响患者的遗传和表型特征的重叠，本报告证实 MAPKAPK5 为致病基因，并增加了独特的神经发育特征。此外，基于报道的复杂先天性泌尿生殖系统异常和 MAPKAPK5 的文献回顾，我们还提出肾脏和外生殖器受累为一个关键的综合征特征，其在男性中可能表现更为严重。
