<unk>  involves an autosomal dominant inheritance pattern. It is caused by a heterozygous missense mutation in the LMNA gene located on chromosome 1 (1q22). LMNA gene encodes for lamin A and lamin C. The lamin family of proteins are components of the nuclear lamina that consists of a protein network within the inner nuclear membrane that determine nuclear stability, chromatin structure and gene expression. Mutations in this gene can lead to several diseases besides<unk> , such as familial partial lipodystrophy, limb girdle muscular dystrophy, Hutchinson-Gilford progeria syndrome etc. Therefore, making it harder to distinguish whether a patient is displaying signs of<unk>  or some other disease. The most common heterozygous mutations found in the LMNA gene are a heterozygous de novo ala57-to-pro substitution (A57P) resulting from a 584G-C transversion in the LMNA gene and a de novo 176T-C transition in exon 1 leading to a leu59-to-arg (L59R) substitution.
Malouf syndrome
Wilson–Turner syndrome
Hanhart syndrome
Omenn syndrome
Kapur–Toriello syndrome
Hunter syndrome
Coffin–Siris syndrome
Turner syndrome