Importantly, exome sequencing in the family did not reveal any mutations in the recently identified MSL genes MFN2 or LIPE. The exome data did not suggest involvement of any other gene associated with lipodystrophy syndromes or overgrowth syndromes involving the mesenchymal lineages (e.g. phosphatase and tensin homolog (PTEN), Neurofibromin (NF1), Menin 1 (MEN1) and others, Fig. S1). The gene discussed is LIPE; the disease is overgrowth syndrome.