Literature DB >> 11158171

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.

T Eggermann1, S Mergenthaler, K Eggermann, A Albers, K Linnemann, C Fusch, M B Ranke, H A Wollmann.   

Abstract

The association of uniparental disomy (UPD) and short stature has been reported for different chromosomes and in several conditions. Therefore, we investigated a cohort of 21 patients referred because of intrauterine and postnatal growth retardation for UPD of chromosomes 2, 7, 9, 14, 16, and 20. Typing of short tandem repeats showed maternal UPD(14) and maternal UPD(20) in two cases. In the first case, an interstitial UPD(14) was detected and the growth retarded newborn showed some additional clinical signs in common with the putative "maternal UPD(14) syndrome". The maternal UPD(20) patient showed minor features. However, since it is only the second maternal UPD(20) case it is too early to delineate a specific syndrome and the role of this constitution in growth remains to be investigated. Our data suggest that searching for UPD in growth retarded patients is a helpful approach to getting more information on the role of UPD in growth retardation. Based on our results, general considerations and indications for UPD testing are discussed.

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Year:  2001        PMID： 11158171      PMCID： PMC1734807          DOI： 10.1136/jmg.38.2.86

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  18 in total

1.  Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy.

Authors:  T Eggermann; H A Wollmann; R Kuner; K Eggermann; H Enders; P Kaiser; M B Ranke
Journal:  Hum Genet       Date:  1997-09       Impact factor: 4.132

2.  Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

Authors:  B E Hayward; V Moran; L Strain; D T Bonthron
Journal:  Proc Natl Acad Sci U S A       Date:  1998-12-22       Impact factor: 11.205

Review 3.  Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

Authors:  D Kotzot
Journal:  Am J Med Genet       Date:  1999-01-29

4.  A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2.

Authors:  J Peters; S F Wroe; C A Wells; H J Miller; D Bodle; C V Beechey; C M Williamson; G Kelsey
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-30       Impact factor: 11.205

5.  Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty.

Authors:  S Fokstuen; C Ginsburg; M Zachmann; A Schinzel
Journal:  J Pediatr       Date:  1999-06       Impact factor: 4.406

6.  Maternal UPD 20 in a hyperactive child with severe growth retardation.

Authors:  I Chudoba; Y Franke; G Senger; G Sauerbrei; S Demuth; V Beensen; A Neumann; I Hansmann; U Claussen
Journal:  Eur J Hum Genet       Date:  1999-07       Impact factor: 4.246

7.  The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies.

Authors:  G E Moore; Z Ali; R U Khan; S Blunt; P R Bennett; J I Vaughan
Journal:  Am J Obstet Gynecol       Date:  1997-02       Impact factor: 8.661

8.  Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).

Authors:  R A Martin; D W Sabol; P K Rogan
Journal:  J Med Genet       Date:  1999-08       Impact factor: 6.318

Review 9.  Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.

Authors:  P R Papenhausen; O T Mueller; V P Johnson; M Sutcliffe; T M Diamond; B G Kousseff
Journal:  Am J Med Genet       Date:  1995-11-20

10.  Uniparental disomy as a mechanism for human genetic disease.

Authors:  J E Spence; R G Perciaccante; G M Greig; H F Willard; D H Ledbetter; J F Hejtmancik; M S Pollack; W E O'Brien; A L Beaudet
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025
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  18 in total

1.  Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.

Authors:  Thomas Eggermann; Klaus Zerres
Journal:  Mol Diagn       Date:  2003

2.  A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Authors:  Giedre Grigelioniene; Pasi I Nevalainen; Monica Reyes; Susanne Thiele; Olta Tafaj; Angelo Molinaro; Rieko Takatani; Marja Ala-Houhala; Daniel Nilsson; Jesper Eisfeldt; Anna Lindstrand; Marie-Laure Kottler; Outi Mäkitie; Harald Jüppner
Journal:  J Bone Miner Res       Date:  2017-02-24       Impact factor: 6.741

3.  Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion.

Authors:  Sami Tsukishiro; Qing Ying Li; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2005-03-04       Impact factor: 3.172

4.  Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Authors:  Emma L Wakeling; Frédéric Brioude; Oluwakemi Lokulo-Sodipe; Susan M O'Connell; Jennifer Salem; Jet Bliek; Ana P M Canton; Krystyna H Chrzanowska; Justin H Davies; Renuka P Dias; Béatrice Dubern; Miriam Elbracht; Eloise Giabicani; Adda Grimberg; Karen Grønskov; Anita C S Hokken-Koelega; Alexander A Jorge; Masayo Kagami; Agnes Linglart; Mohamad Maghnie; Klaus Mohnike; David Monk; Gudrun E Moore; Philip G Murray; Tsutomu Ogata; Isabelle Oliver Petit; Silvia Russo; Edith Said; Meropi Toumba; Zeynep Tümer; Gerhard Binder; Thomas Eggermann; Madeleine D Harbison; I Karen Temple; Deborah J G Mackay; Irène Netchine
Journal:  Nat Rev Endocrinol       Date:  2016-09-02       Impact factor: 43.330

Review 5.  Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

Authors:  D Kotzot
Journal:  J Med Genet       Date:  2001-08       Impact factor: 6.318

6.  High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

Authors:  Cindy Colson; Matthieu Decamp; Nicolas Gruchy; Nadia Coudray; Céline Ballandonne; Claire Bracquemart; Arnaud Molin; Hervé Mittre; Rieko Takatani; Harald Jüppner; Marie-Laure Kottler; Nicolas Richard
Journal:  Bone       Date:  2019-03-21       Impact factor: 4.398

7.  Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.

Authors:  Anne-Claire Bréhin; Cindy Colson; Stéphanie Maupetit-Méhouas; Virginie Grybek; Nicolas Richard; Agnès Linglart; Marie-Laure Kottler; Harald Jüppner
Journal:  J Clin Endocrinol Metab       Date:  2015-01-20       Impact factor: 5.958

Review 8.  Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature.

Authors:  Z Powis; R P Erickson
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

Review 9.  GNAS mutations and heterotopic ossification.

Authors:  Murat Bastepe
Journal:  Bone       Date:  2017-09-06       Impact factor: 4.398

10.  Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

Authors:  Surabhi Mulchandani; Elizabeth J Bhoj; Minjie Luo; Nina Powell-Hamilton; Kim Jenny; Karen W Gripp; Miriam Elbracht; Thomas Eggermann; Claire L S Turner; I Karen Temple; Deborah J G Mackay; Holly Dubbs; David A Stevenson; Leah Slattery; Elaine H Zackai; Nancy B Spinner; Ian D Krantz; Laura K Conlin
Journal:  Genet Med       Date:  2015-08-06       Impact factor: 8.822
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