Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Avenue Avicenne, 5019, Monastir, Tunisia.
Aix Marseille University, INSERM, GMGF, Marseille, France.
BMC Pediatr. 2018 Aug 29;18(1):286. doi: 10.1186/s12887-018-1259-8.
Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder.
This study is the first report of the coexistence of Noonan (NS) and Incontinentia Pigmenti (IP) syndromes in the same patient. We report on the clinical phenotype and molecular characterization of this patient. The patient was examined by a pluridisciplinary staff of clinicians and geneticist. The clinical diagnosis of NS and IP was confirmed by molecular investigations. The newborn girl came to our clinics due to flagrant dysmorphia and dermatological manifestations. The clinical observations led to characterize the Incontinentia Pigmenti traits and a suspicion of a Noonan syndrome association. Molecular diagnosis was performed by Haloplex resequencing of 29 genes associated with RASopathies and confirmed the NS diagnosis. The common recurrent intragenic deletion mutation in IKBKG gene causing the IP was detected with an improved PCR protocol.
This is the first report in the literature of comorbidity of NS and IP, two rare multisystem syndromes.
努南综合征（NS）是一种常染色体显性多系统疾病，由 RAS 丝裂原活化蛋白激酶（MAPK）信号通路中几个基因的失调引起。色素失禁症（IP）是一种 X 连锁、显性遗传的多系统疾病。
本研究首次报道了同一患者同时存在努南（NS）和色素失禁症（IP）综合征。我们报告了这名患者的临床表型和分子特征。患者由临床医生和遗传学家组成的多学科团队进行了检查。通过分子研究证实了 NS 和 IP 的临床诊断。这名新生女婴因明显的畸形和皮肤表现来到我们的诊所。临床观察导致了色素失禁症特征的特征化，并怀疑存在努南综合征的关联。通过与 RAS 病相关的 29 个基因的 Haloplex 重测序进行分子诊断，证实了 NS 诊断。采用改良的 PCR 方案检测到导致 IP 的 IKBKG 基因常见的重复内含子缺失突变。
这是文献中首次报道 NS 和 IP 两种罕见的多系统综合征并存的病例。
