Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

BMC Pediatrics
Nehla GhediraAnnachiara De Sandre-Giovannoli

Abstract

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.

References

Jan 1, 1990·Cardiology·D AntonelliT Rosenfeld
Jul 1, 1987·Journal of Medical Genetics·A D OrmerodA W Johnston
Nov 1, 1994·American Journal of Medical Genetics·I van der BurgtE Mariman
Nov 3, 2004·Nature Reviews. Molecular Cell Biology·Claudia WellbrockRichard Marais
Dec 17, 2005·American Journal of Human Genetics·Marco TartagliaBruce D Gelb
Jul 3, 2007·Nature Genetics·M Abdur RazzaqueRumiko Matsuoka
May 13, 2008·Human Mutation·Yoko AokiYoichi Matsubara
Jul 25, 2008·Journal of Human Genetics·Yoko NarumiYoichi Matsubara
May 27, 2009·Current Opinion in Genetics & Development·William E Tidyman, Katherine A Rauen
Dec 25, 2009·Pediatrics International : Official Journal of the Japan Pediatric Society·Munkhtuya TumurkhuuMasashi Mizuguchi
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Jul 6, 2010·American Journal of Medical Genetics. Part a·Judith E AllansonMartin Zenker
Jul 22, 2010·Molecular Syndromology·M TartagliaB D Gelb
Sep 30, 2010·Pediatrics·Alicia A RomanoJacqueline A Noonan
Oct 21, 2010·Annals of the New York Academy of Sciences·Marco Tartaglia, Bruce D Gelb
Mar 15, 2011·Best Practice & Research. Clinical Endocrinology & Metabolism·Marco TartagliaMartin Zenker
Jul 21, 2011·Journal of Paediatrics and Child Health·Anne M Turner
Jan 15, 2013·Lancet·Amy E RobertsBruce D Gelb
Apr 25, 2013·American Journal of Medical Genetics. Part a·Paola CianciAngelo Selicorni
Jun 28, 2013·Clinical Genetics·S MinićM Obradović
May 2, 2014·American Journal of Medical Genetics. Part a·Maria Elena SanaMaria Iascone
Jun 26, 2014·Orphanet Journal of Rare Diseases·Francesca FuscoMatilde Valeria Ursini
Sep 24, 2014·Hormone Research in Pædiatrics·Lamia Cherif Ben AbdallahNejib Ben Abdallah
Nov 14, 2014·American Journal of Medical Genetics. Part a·Katherine A RauenMeena Upadhyaya
May 27, 2015·Clinical Genetics·L RomdhaneS Abdelhak
Sep 19, 2015·Progress in Pediatric Cardiology·Bruce D GelbMarco Tartaglia
Oct 16, 2015·Fetal and Pediatric Pathology·Anna W KneitelMarjorie C Treadwell

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Citations

Jun 20, 2020·Birth Defects Research·Cedrik Tekendo-Ngongang, Paul Kruszka

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Integrative Genomic Viewer
Ion Torrent package
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