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Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome
Author(s) -
ElAleem Alice Abd,
Karck Matthias,
Haverich Axel,
Schmidtke Jörg,
ArslanKirchner Mine
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)14:2<181::aid-humu10>3.0.co;2-6
Subject(s) - marfan syndrome , biology , identification (biology) , genetics , fibrillin , german , mutation , computational biology , bioinformatics , medicine , gene , history , botany , archaeology
We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium‐binding (cb) epidermal growth factor‐like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by phenylalanine (C504F), cysteine by tyrosine (C1129Y), tyrosine by cysteine (Y1261C), cysteine by serine (C1833S), and cysteine by tyrosine (C2142Y), respectively. The other four mutations are single base deletions in exons 39, 43, 48, and 58, at nucleotide A4826, C5311, T6018, and A7291, respectively, each resulting in frameshift with premature termination. Four mutations were detected in sporadic cases and are likely to be de novo . Hum Mutat 14:181, 1999. © 1999 Wiley‐Liss, Inc.