PMC8092436_01
(A) DNA analysis sequencing of the proband by NGS and Sanger sequencing revealed the heterozygous c.604G>A change in LMNA gene. (B) Lamin A and location of probable pathogenic variant identified in our patient. (C) Alignment of the human lamin A aminoacidic sequence with homologous proteins. The affected amino acid is highlighted in black.
fendo-12-675096-g001.jpg
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f1
Physical evaluation revealed an altered adipose tissue distribution suggestive of Dunnigan-type lipodystrophy; she had atrophy of subcutaneous fat in the lower limbs and normal fat representation in the trunk and arms, in spite of increased accumulation around the neck, face and dorsocervical region ( Figure 1 ).
PMC8092436_02
Body fat distribution pattern of the patient.
fendo-12-675096-g002.jpg
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f2
A heterozygous missense variant c.604G>A was found in the exon 3 of the LMNA gene, leading to amino acid substitution glutamic acid to lysine (p.Glu202Lys) ( Figure 2 ).