Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. (MOSAÏQUE)

Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.

The principal result expected is the discovery of inframicroscopic chromosomal rearrangements in regions of the genome not yet known to be involved, or mutations in known candidate genes;

The identification of such a mosaic rearrangement in an affected infant would lead to improved genetic counselling. Indeed, as this mosaicism is a consequence of a genetic event occurring at an early stage of embryogenesis, it would be possible to confirm the sporadic nature of the observed disorder and therefore to predict a very low or even negligible risk of recurrence for the couple concerned. For the affected infant, the risk for his/her own offspring will be assessed according to the nature of the genetic anomaly discovered. For medical practice, investigators hope that this study will lead to a clearer definition of the screening modalities for mosaicism in the disorders concerned. In particular, they hope to determine whether or not it is possible to dispense with a skin biopsy, which is more invasive than a blood sample.

Study Overview

• Status: Completed
• Conditions: Malformations With Skin Manifestations Suggesting Mosaicism
• Intervention / Treatment: Biological: Peripheral blood samples in EDTA tubes; Procedure: Skin biopsies

• Study Type: Interventional
• Enrollment (Actual): 315
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Dijon, France, 21000
    • CHU Dijon

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 months and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Persons who have provided written informed consent
• Lower age limit: infant born at more than 37 WA
• Sporadic disorder
• Patients presenting at least two skin criteria, or one skin criterion and one non-skin criterion
• Skin criteria: 1- extensive epidermal or sebaceous naevus, 2- Extensive "segmental" haemangioma, 3- Flat angioma or extensive complex vascular malformation, 4-Pigmentary disorders with patterns suggesting mosaicism (Blaschko lines)
• Non-skin criteria: Cerebral, ocular, cardiac or genito-urinary malformation, asymmetric body, segmental hypertrophy of a limb, spinal dysraphism (only when associated with haemangioma)

Exclusion Criteria:

• Persons not covered by the national health insurance scheme
• Mendelian disorders: CM-AVM syndrome, glomangiomatosis, Cowden or Bannayan syndrome, type 1 neurofibromatosis, incontinentia pigmenti, CHILD syndrome, Happle-type chondrodysplasia punctata
• Mendelian mosaic disorders: epidermal or epidermolytic, comedo or dyskeratotic nevus.
• Family history of one of these disorders
• Suspicion or an autosomal dominant disease
• Patient and/or parent under guardianship or ward of court

Study Plan

How is the study designed?

Design Details

• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Parents; 2 parents of child	Biological: Peripheral blood samples in EDTA tubes
Other: infant	Biological: Peripheral blood samples in EDTA tubes; Procedure: Skin biopsies

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Presence or not of inframicroscopic chromosomal rearrangements	baselines

Secondary Outcome Measures

Outcome Measure	Time Frame
Rate of detection of a chromosomal anomaly	baselines

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire Dijon

Publications and helpful links

General Publications

• Sorlin A, Maruani A, Aubriot-Lorton MH, Kuentz P, Duffourd Y, Teysseire S, Carmignac V, St-Onge J, Chevarin M, Jouan T, Thauvin-Robinet C, Thevenon J, Faivre L, Riviere JB, Vabres P. Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis. J Invest Dermatol. 2017 Jul;137(7):1575-1578. doi: 10.1016/j.jid.2017.01.035. Epub 2017 Feb 28. No abstract available.

Study record dates

Study Major Dates

• Study Start (Actual): February 20, 2012
• Primary Completion (Actual): September 8, 2017

Study Registration Dates

• First Submitted: August 27, 2013
• First Submitted That Met QC Criteria: September 23, 2013
• First Posted (Estimated): September 26, 2013

Study Record Updates

• Last Update Posted (Estimated): February 21, 2024
• Last Update Submitted That Met QC Criteria: February 20, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Manifestations
• Other Study ID Numbers: VABRES PHRC N 2010