Title :

Mayer-rokitansky-kunster-hauser syndrome due to 2q12. 1q14. 1 deletion: pax8 the causing gene?

Author(s) :

Smol, Thomas [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Ribero-Karrouz, Wassila [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Edery, Patrick [Auteur]
CIC CHU Lyon (inserm)
Gorduza, Daniela Brindusa [Auteur]
Hôpital Femme Mère Enfant [CHU - HCL] [HFME]
Jonard Catteau, Sophie [Auteur]
CIC CHU ( Lille)/inserm
Lille Neurosciences & Cognition (LilNCog) - U 1172
Manouvrier, Sylvie [Auteur]
Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
Ghoumid, Jamal [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Journal title :

European Journal of Medical Genetics

Abbreviated title :

Eur J Med Genet

Volume number :

63

Pages :

103812

Publication date :

2019-11-12

ISSN :

1878-0849

Keyword(s) :

Mayer-Rokitansky-Kuster-Hauser syndrome
Hypothyroidism
Mullerian agenesis
PAX8

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder ...
Show more >Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified genetic cause. However, four recurrent microdeletions, i.e. 1q21.1-16p11.2-17q12 and 22q11.21, as well as variants in genes contained in these loci, have been identified in a small number of cases. We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia. The patient received a dual diagnosis with microdeletion of SHOX locus in addition to the 2q12.1q14.1 microdeletion. Literature review and database analysis has enabled us to identify 5 OMIM morbid genes: CKAP2L, IL1B, IL1RN, IL36RN and PAX8. Among these, PAX8 (Paired Box Gene 8), a transcriptional factor part of the paired-box family, plays a key role in the development of the thyroid gland, kidneys and Müllerian derivatives. We discuss here the role of PAX8 and speculate on the possible involvement of PAX8 in MRKH. In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism. Further studies will confirm the direct participation of PAX8 in gene target sequencing in a population of MRKH with hypothyroidism.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172
• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Research team(s) :

Développement et plasticité du cerveau neuro-endocrine

Submission date :

2021-06-23T13:43:23Z
2021-11-10T11:27:21Z