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Master Thesis

Implication des mutations de PIGN dans le syndrome de Fryns, description de la cohorte réunionnaise et revue de la littérature

Abstract : Background: Fryns syndrome (FS) is an autosomal recessive, rare polymalformative, lethal syndrome. One of the main symptoms is congenital diaphragmatic hernia (CDH). PIGN is a gene of interest whose recurrent deletion of exons 5 to 7 suggests a founder effect in Indian Ocean (IO). Method: Analysis of the recurrent deletion of PIGN by HRM PCR is performed in 10 patients with FS, native from IO, then completed by Sanger sequencing. To determine heterozygous frequency, deletion is sought in a representative sample of general population of La Reunion Island, and in patients with CDH. We describe phenotype of previously published patients and from our cohort with biallelic PIGN mutation. Results: Seven patients with FS are homozygous for the recurrent deletion, two patients from the same sibling are heterozygous for the deletion and for a missense mutation. Frequency of heterozygous is estimated at 0.735%. None of the 24 patients with CDH carry the deletion. Most frequent clinical presentation of FS with biallelic loss of function of PIGN are dysmorphia, hypoplasia of the distal phalanges and/or nails, early epilepsy and congenital malformations. Antenatally, ultrasound signs are non-specific, except CDH. Conclusion: Analyze of recurrent PIGN deletion is indicated in patients, native from OI, with suggestive FS. In antenatal, it can be proposed in case of ultrasound evidence of CDH.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03016142
Contributor : La Réunion Université <>
Submitted on : Friday, November 20, 2020 - 11:45:13 AM
Last modification on : Wednesday, June 30, 2021 - 9:40:16 PM

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  • HAL Id : dumas-03016142, version 1

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Audrey Méleu. Implication des mutations de PIGN dans le syndrome de Fryns, description de la cohorte réunionnaise et revue de la littérature. Sciences du Vivant [q-bio]. 2020. ⟨dumas-03016142⟩

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