What is LISI mutations ?

Q. The above image finding is associated with all the following genes except

 a.LIS1 mutations.

b.DCX (doublecortin) mutations.

c. PROKR2

d.ARX mutations.

e.RELN mutations

ANS .---c

PROKR2 gene is associated with Kallman syndrome.

Kallmann syndrome may be of X-linked, autosomal dominant, or autosomal recessive inheritance . It can be divided by genotype into four different types: KAL1 (X-linked) and the autosomal types KAL2, KAL3, and KAL4.

VLDLR mutations is associated with the lissencephaly band heterotopia spectrum.

LIS1 mutations may result in the phenotypes of the Miller-Dieker syndrome, isolated lissencephaly sequence (ILS), or subcortical band heterotopia (SBH)

The DCX gene, or XLIS located on Xq22.3-q23, encodes a protein named doublecortin, which, similar to LIS1, depending on the type of mutation, may result in the phenotype of ILS, SBH or central pachygyria