Am J Med Genet. 1996 Feb 2;61(4):320-4.

Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.

Janoff HB, Muenke M, Johnson LO, Rosenberg A, Shore EM, Okereke E, Zasloff M, Kaplan FS.

Source

Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, USA.

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of connective tissue characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the soft tissues in specific anatomic and temporal patterns. We observed classic findings of FOP in 2 Native American half-sisters with the same unaffected mother and different unaffected fathers. This is the first report of FOP in sibs from different pregnancies with unaffected parents. The findings in this family indicate the possibility of maternal gonadal mosaicism in FOP and provide important new data for genetic counseling in this disease.

PMID:: 8834042; [PubMed - indexed for MEDLINE]

MeSH Terms

LinkOut - more resources

Full Text Sources

OhioLINK Electronic Journal Center

Medical

fibrodysplasia ossificans progressiva - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. [J Bone Joint Surg Am. 1993]
Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family.
Kaplan FS, McCluskey W, Hahn G, Tabas JA, Muenke M, Zasloff MA. J Bone Joint Surg Am. 1993 Aug; 75(8):1214-20.
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. [Am J Hum Genet. 2000]
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.
Feldman G, Li M, Martin S, Urbanek M, Urtizberea JA, Fardeau M, LeMerrer M, Connor JM, Triffitt J, Smith R, et al. Am J Hum Genet. 2000 Jan; 66(1):128-35.
Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22. [Genet Couns. 2000]
Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.
Lucotte G, Bathelier C, Mercier G, Gérard N, Lenoir G, Sémonin O, Fontaine K, FOP Consortium. Fibrodysplasia Ossificans Progressiva Consortium. Genet Couns. 2000; 11(4):329-34.
Review Fibrodysplasia ossificans progressiva: clinical and genetic aspects. [Orphanet J Rare Dis. 2011]
Review Fibrodysplasia ossificans progressiva: clinical and genetic aspects.
Pignolo RJ, Shore EM, Kaplan FS. Orphanet J Rare Dis. 2011 Dec 1; 6:80. Epub 2011 Dec 1.
Review Fibrodysplasia (myositis) ossificans progressiva. [Semin Arthritis Rheum. 1994]
Review Fibrodysplasia (myositis) ossificans progressiva.
Bridges AJ, Hsu KC, Singh A, Churchill R, Miles J. Semin Arthritis Rheum. 1994 Dec; 24(3):155-64.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.

Recent activity

Clear Turn Off Turn On

Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal...
Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.
Am J Med Genet. 1996 Feb 2 ;61(4):320-4.

PubMed
Idiopathic calcium oxalate urolithiasis and endogenous oxalate production.
Idiopathic calcium oxalate urolithiasis and endogenous oxalate production.
Crit Rev Clin Lab Sci. 1996 ;33(1):39-82.

PubMed
Multidrug resistance-associated protein (MRP) in haematological malignancies.
Multidrug resistance-associated protein (MRP) in haematological malignancies.
Leuk Lymphoma. 1996 Feb ;20(5-6):381-7.

PubMed
Physiological origins and functional correlates of EEG rhythmic activities: impl...
Physiological origins and functional correlates of EEG rhythmic activities: implications for self-regulation.
Biofeedback Self Regul. 1996 Mar ;21(1):3-33.

PubMed
Neurochemical development of the hippocampal region in the fetal rhesus monkey, ...
Neurochemical development of the hippocampal region in the fetal rhesus monkey, III: calbindin-D28K, calretinin and parvalbumin with special mention of cajal-retzius cells and the retrosplenial cortex.
J Comp Neurol. 1996 Mar 18 ;366(4):674-99.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.

Source

Abstract

MeSH Terms

MeSH Terms

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information