Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficiency, and pulmo...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-04, Vol.143A (8), p.875-880
Main Authors: Tekin, Mustafa, Cengiz, Filiz Başak, Ayberkin, Eda, Kendirli, Tanıl, Fitoz, Suat, Tutar, Ercan, Çiftçi, Ergin, Conba, Atakan
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chronic obstructive pulmonary disease, asthma
cysteine residue
emphysema
Family Health
Fatal Outcome
Fibrillin-1
Fibrillins
Genetic Counseling
Heterozygote
Humans
Infant, Newborn
Male
Marfan Syndrome - diagnosis
Marfan Syndrome - genetics
Medical genetics
Medical sciences
Microfilament Proteins - genetics
Mosaicism
Mutation, Missense
neonatal Marfan syndrome
Pneumology
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
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Summary:We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficiency, and pulmonary emphysema. All three siblings died due to cardiorespiratory insufficiency by 2–4 months of age. Screening of the FBN1 gene showed the heterozygous c.3257G > A (p.Cys1086Tyr) mutation in the proband. Mosaicism of the mutation was demonstrated in the somatic cells and in the germ line of the father. Although three examples of parental mosaicism for classical MFS were demonstrated previously, this is the first report of familial occurrence of neonatal MFS due to a heterozygous mutation in FBN1. In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS. Parental mosaicism should always be kept in mind when counseling families with MFS. © 2007 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31660