We report on the sporadic case of congenital disorder (Malouf syndrome), that causes a following symptoms: mental retardation, ovarian dysgenesis (hypergonadotropic hypogonadism), dilated cardiomyopathy, narrow face, prominent nose, a small chin together with retrognatia and occasionally marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly ) in young female (age 23 years). Sequence analysis of the coding region of the lamin A/C (LMNA) gene including exon‑intron was performed and there was found no mutations.What candidate genes of Maloof syndrome need to examine an additional if not reveal in Lamin A/C gene mutations? Or is it some other overlapping phenotype? What is it?
Hi Tatiyana this is a tricky question and one which is probably beyond my field of expertise.
However it is possible that the mutation lies outside of the gene in the promoter region of the lamin gene (although this seems unlikely).
Another possibility is that the mutation lies in a protein that interacts with the lamin protein(s) such as a Nesprin family member
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0071850
although from a brief glance mutations in the Nesprins appear to give a more muscular dystrophy phenotype (EDMD).
Yet another possibility is that the mutation lies in the Lamin B gene although diseases from this gene does not seem to give this phenotype and the low number of diseases noted indicates mutations in this gene are lethal in the embryo
http://www.sciencedirect.com/science/article/pii/S1084952113001419
All I can suggest is that you examine the proteins known to interact with lamin A/C to see if mutation or loss of one of them may lead to a similar phenotype.
This appears to be a pretty good review of the envelope and protein interactions
http://www.research.ed.ac.uk/portal/files/18765823/Nucleoskeleton_dynamics_and_functions_in_health_and_disease.pdf
Sorry I can't be more help!
Gary
Thank you Gary!
We will investigate the genes encoding proteins- partners
Sincerely