Literature DB >> 3314506

Gonadal mosaicism in pseudoachondroplasia.

J G Hall1, J P Dorst, J Rotta, V A McKusick.   

Abstract

We report on a family in which a brother and sister have pseudoachondroplasia and normal parents. The brother married a normal woman, and they have 2 daughters; one of them has typical changes of pseudoachondroplasia, the other is normal. The most likely explanation in this family is gonadal (germinal cell) mosaicism in one of the grandparents. Other reports of possible autosomal recessive pseudoachondroplasia are reviewed. It is likely that gonadal mosaicism is responsible for a small percentage of cases with what appears to be a new mutation for pseudoachondroplasia.

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Mesh：

Year:  1987        PMID： 3314506     DOI： 10.1002/ajmg.1320280121

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  16 in total

1.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Authors:  T Grimm; B Müller; C R Müller; M Janka
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

2.  Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

Authors:  E W Murray; A R Giles; D Lillicrap
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

3.  Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.

Authors:  K Wieland; D S Millar; C B Grundy; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

Review 4.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

5.  Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Authors:  J E Finkelstein; K Doege; Y Yamada; R E Pyeritz; J M Graham; J B Moeschler; R M Pauli; J T Hecht; C A Francomano
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

6.  Recurrence risk of a new dominant mutation in children of unaffected parents.

Authors:  E M Wijsman
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

Review 7.  Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.

Authors:  J W Stevens
Journal:  Iowa Orthop J       Date:  1999

8.  Achondroplasia in sibs of normal parents.

Authors:  N Philip; M Auger; J F Mattei; F Giraud
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

9.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

10.  Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Authors:  D H Cohn; B J Starman; B Blumberg; P H Byers
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025
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