1. Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
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Kamel Monastiri, Rania Sakka, Karim Ben Ameur, Emna Kerkeni, Arnaud Lagarde, F.Z. Chioukh, Valérie Delague, Sylviane Olschwang, Annachiara De Sandre-Giovannoli, Jean-Pierre Desvignes, Sonia Abdelhak, Sahar Elouej, Nehla Ghedira, Nicolas Lévy, Université de Monastir - University of Monastir (UM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Fattouma Bourguiba [Monastir] (HFB), Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Hôpital Privé Clairval [Marseille], Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), This study was partially funded by the University Foundation A*MIDEX by providing the Haloplex kit and the reagents needed for this study., We thank the patient and her family for participating in this research. We would like to thank also both the personnel of the Department of intensive care and neonatal medicine, CHU Fattouma Bourguiba, Monastir, Tunisia and all members of the team of the INSERM unit UMR_S910, GMGF, Aix Marseille University, Marseille, France (Karim Harhouri, Cathy Bartoli, Guy Longepied, Françoise Merono). We also thank Pr Moncef Rassas for his helpful comments., ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011), University of Monastir, Marseille medical genetics - Centre de génétique médicale de Marseille ( MMG ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Hôpital de la Timone [CHU - APHM] ( TIMONE ), Hôpital Fattouma Bourguiba [Monastir] ( HFB ), Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory ( LR11IPT05 ), Université Tunis El Manar ( UTM ) -Institut Pasteur de Tunis, Réseau International des Instituts Pasteur ( RIIP ) -Réseau International des Instituts Pasteur ( RIIP ), Ben Hassine, AbdelHakim, INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE - - Amidex2011 - ANR-11-IDEX-0001 - IDEX - VALID, and Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)
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0301 basic medicine ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Tunisia ,[ SDV.MHEP.AHA ] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO] ,[SDV]Life Sciences [q-bio] ,Mutation, Missense ,Case Report ,Comorbidity ,Polymerase Chain Reaction ,03 medical and health sciences ,Rare Diseases ,Next generation sequencing ,Medicine ,Humans ,Incontinentia Pigmenti ,RAF1 ,Clinical phenotype ,skin and connective tissue diseases ,business.industry ,RAS-MAPK pathway ,Noonan Syndrome ,lcsh:RJ1-570 ,IKBKG gene ,Infant, Newborn ,lcsh:Pediatrics ,Incontinentia pigmenti ,Exons ,Sequence Analysis, DNA ,medicine.disease ,Dermatology ,3. Good health ,I-kappa B Kinase ,[SDV] Life Sciences [q-bio] ,Proto-Oncogene Proteins c-raf ,Dysmorphism ,X-linked disorder ,030104 developmental biology ,[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie ,Clinical diagnosis ,Deletion mutation ,Pediatrics, Perinatology and Child Health ,Mutation ,Noonan syndrome ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Female ,business ,Gene Deletion - Abstract
International audience; BACKGROUND: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.CASE PRESENTATION: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.CONCLUSION:This is the first report in the literature of comorbidity of NS and IP, two rare multisystem syndromes.
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- 2018
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