PMID- 10425041
OWN - NLM
STAT- MEDLINE
DCOM- 19990812
LR  - 20161124
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 2
DP  - 1999 Aug 19
TI  - Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
PG  - 181
AB  - 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.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - El-Aleem, A A
AU  - El-Aleem AA
AD  - Institute of Human Genetics, Hannover, Germany.
FAU - Karck, M
AU  - Karck M
FAU - Haverich, A
AU  - Haverich A
FAU - Schmidtke, J
AU  - Schmidtke J
FAU - Arslan-Kirchner, M
AU  - Arslan-Kirchner M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (FBN1 protein, human)
RN  - 0 (Fibrillin-1)
RN  - 0 (Fibrillins)
RN  - 0 (Microfilament Proteins)
RN  - 62229-50-9 (Epidermal Growth Factor)
SB  - IM
MH  - Adult
MH  - Calcium-Binding Proteins/genetics
MH  - Epidermal Growth Factor/genetics
MH  - Exons
MH  - Female
MH  - Fibrillin-1
MH  - Fibrillins
MH  - Frameshift Mutation
MH  - Germany
MH  - Humans
MH  - Male
MH  - Marfan Syndrome/*genetics
MH  - Microfilament Proteins/*genetics
MH  - Mutation, Missense
EDAT- 1999/07/29 00:00
MHDA- 1999/07/29 00:01
CRDT- 1999/07/29 00:00
PHST- 1999/07/29 00:00 [pubmed]
PHST- 1999/07/29 00:01 [medline]
PHST- 1999/07/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU10>3.0.CO;2-6 [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU10>3.0.CO;2-6 [doi]
PST - ppublish
SO  - Hum Mutat. 1999 Aug 19;14(2):181. doi:
      10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU10>3.0.CO;2-6.