RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

A study aims to identify the causative gene which is associated with an autosomal-recessive disorder known as MACS syndrome, characterized by abnormal skin phenotypes such as macrocephaly, alopecia, cutis laxa, and scoliosis in humans. Results reveal that a homozygous frameshift mutation in the RIN2 gene located at chromosome 20p11.21-p11.23 results in the deficiency of RIN2 protein, which is expressed as MACS syndrome.