Figure 1.

Phenotype, pedigree and immunohistology in a familial case of MSL. (a) Phenotype of the index patient in a MSL family. (b) Pedigree of the MSL affected family harboring a heterozygous rare missense variant in the CAPSL gene. Red circles denote family members who were examined using whole exome sequencing (WES). We validated variants of interest with Sanger sequencing. Sanger sequencing for the CAPSL variant c.25C > T in all 3 affected and one obligate carrier are shown. (c) Immunohistochemistry of CAPSL and UCP1 of control adipose tissue and of adipose tissue from a MSL affected region of the index patient. Upper row: CAPSL is absent in the index patient’s fat cells while it was found to be expressed in control fat. CAPSL was also not or rarely expressed in adipose tissue from sporadic MSL patients (Fig. 2). Lower row: UCP1 is strongly expressed in the MSL affected subcutaneous fatty tissue but not in control fatty tissue.