17q12 microdeletion syndrome is the first among chromosomal abnormalities demonstrated to cause diabetes and the third to cause renal disease. 17q12 micordeletion has recently been described to also be a rare cause of Mayer-Rokitansky-Kuester-Hauser syndrome (MRKH, OMIM 277000), an entity originally reported as caused by translocation t(12;14)(q14;q31) (PMID: 19889212). MRKH is characterised by uterus aplasia with our without partial or complete vaginal aplasia. Interestingly the authors found out that 17q12 can cause MRKH with or without kidney anomalies. Further evidence that MRKH can be caused also by 17q12 is reported by Ledig S et al, 2011 (PMID: 20797712) and Nik-Zainal S et al 2011, (PMID 21278390). In their latest publication from 2012, Ledig S et al (PMID: 22740494) summarised that about 6% of all MRKH cases are caused by 17q12. As the LHX1 gene is encompassed by the deletion, the authors screened the sequence of this gene in a large cohort of MRKH patients and found a frameshift mutation in one patient, enlarging the description of the mutational spectrum of LHX1, in which they had previously reported also a missense mutation.
FACTS
The LHX1 gene spans about 11.1 Kb and includes 5 exons. It is located on 17q12.
References: see text.
FACTS
The LHX1 gene spans about 11.1 Kb and includes 5 exons. It is located on 17q12.
References: see text.
