Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.

Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing with the recent advancements in sequencing technologies. Using massive parallel sequencing, we identified a novel frame shift insertion in the abnormal spindle-like microcephaly-associated protein gene in a client with true autosomal recessive primary microcephaly.

Genetic association of G896A polymorphism of TLR4 gene in leprosy through family-based and case-control study designs.

Background: Polymorphisms in TLR4 may change the function of the protein and alter the efficiency of immune response of host to infection. The high relevance of host gene polymorphisms with outcome of Mycobacterium leprae infection led us to study the genetic association of TLR4 G896A polymorphism in order to identify its risk among contacts of affected leprosy patients.

Methods: For case-control study design a total of 628 individuals were recruited; 17 multicase leprosy families which included 32 case-parent trios were considered for family-based study.

Killer cell immunoglobulin like receptor gene association with tuberculosis.

NK cells are vital components of innate immune system and are the first cells which come into picture mediating resistance against intracellular pathogens. NK cell cytotoxicity is modulated by a wide variety of cell surface receptors that recognize and respond towards infected cells. Activation of NK cells are controlled by both inhibitory and activating receptors, encoded by KIR genes and bind to HLA ligands.