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Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

Abstract：

: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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Smol T,Ribero-Karrouz W,Edery P,Gorduza DB,Catteau-Jonard S,Manouvrier-Hanu S,Ghoumid J

doi

10.1016/j.ejmg.2019.103812

subject

Has Abstract

pub_date

2020-04-01 00:00:00

pages

103812

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(19)30433-1

journal_volume

63

pub_type

杂志文章

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