TY - JOUR
T1 - A 45-year-old Italian male with p.(Gly1815Ser) FBN1 mutation causing a mild variant of Marfan syndrome
T2 - A case study
AU - Cortini, Francesca
AU - Villa, Chiara
AU - Marinelli, Barbara
AU - Franchetti, Sara
AU - Riboldi, Luciano
AU - Bassotti, Alessandra
PY - 2020/4/1
Y1 - 2020/4/1
N2 - A 45-year-old Italian male was referred as suspected of having a heritable connective tissue disorders by clinical findings, including joint hyperlaxity and soft, smooth, velvety, and slightly elastic skin. Using a specific custom panel including genes involved in these disorders, next-generation sequencing (NGS) analysis led to the identification of the c. 5443G>A, p.(Gly1815Ser), (rs745680336) variant in fibrillin-1 (FBN1) gene, encoding the FBN1. Mutations in this protein are responsible for different connective tissue disorders, collectively known as type 1 fibrillinopathies, including Marfan syndrome (MFS). Multiple sequencing alignment of human FBN1 protein with various species revealed that the mutation occurred within a highly conserved region of the calcium-binding epidermal growth factor-like domain and affected the protein structure/function, suggesting its pathogenic role. NGS techniques successfully identified the molecular defect in this patient, clinically resembling as MFS, even if a clear genotype-phenotype correlation remains still challenging.
AB - A 45-year-old Italian male was referred as suspected of having a heritable connective tissue disorders by clinical findings, including joint hyperlaxity and soft, smooth, velvety, and slightly elastic skin. Using a specific custom panel including genes involved in these disorders, next-generation sequencing (NGS) analysis led to the identification of the c. 5443G>A, p.(Gly1815Ser), (rs745680336) variant in fibrillin-1 (FBN1) gene, encoding the FBN1. Mutations in this protein are responsible for different connective tissue disorders, collectively known as type 1 fibrillinopathies, including Marfan syndrome (MFS). Multiple sequencing alignment of human FBN1 protein with various species revealed that the mutation occurred within a highly conserved region of the calcium-binding epidermal growth factor-like domain and affected the protein structure/function, suggesting its pathogenic role. NGS techniques successfully identified the molecular defect in this patient, clinically resembling as MFS, even if a clear genotype-phenotype correlation remains still challenging.
KW - Fibrillin-1 gene
KW - heritable connective tissue disorders
KW - Marfan syndrome
KW - next-generation sequencing
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U2 - 10.4103/ds.ds_16_19
DO - 10.4103/ds.ds_16_19
M3 - Article
AN - SCOPUS:85085881806
VL - 38
SP - 98
EP - 101
JO - Dermatologica Sinica
JF - Dermatologica Sinica
SN - 1027-8117
IS - 2
ER -