Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause

Author:

Hannula Katariina1,Lipsanen-Nyman Marita2,Kristo Paula1,Kaitila Ilkka3,Simola Kalle O. J.4,Lenko Hanna Liisa5,Tapanainen Päivi6,Holmberg Christer2,Kere Juha17

Affiliation:

1. Department of Medical Genetics, University of Helsinki, Helsinki, Finland

2. Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland

3. Clinical Genetics Unit, Helsinki University Central Hospital, Helsinki, Finland

4. Department of Clinical Genetics, Center for Laboratory Medicine, Tampere University Hospital, Tampere, Finland

5. Department of Pediatrics, University of Tampere, Tampere, Finland

6. Department of Pediatrics, University of Oulu, Oulu, Finland

7. Finnish Genome Center, University of Helsinki, Helsinki, Finland

Abstract

Objective. Many short-statured children lack an etiologic explanation for their retarded growth. Recently, uniparental disomy (UPD), the inheritance of both chromosomes of a chromosome pair from only 1 parent, has been associated with short stature for many chromosomes. Silver-Russell syndrome (SRS) represents an extreme syndrome of intrauterine growth retardation (IUGR) and slight dysmorphic signs, and maternal UPD of human chromosome 7 (matUPD7) has been observed in approximately 10% of SRS cases. In addition, matUPD7 has been reported in patients with only slight dysmorphic features and prenatal or postnatal growth retardation. The objectives of this study were to study the role of matUPD7 in growth failure of unknown cause and in cases of SRS, and to evaluate the efficiency of genetic testing for matUPD7 as a diagnostic tool. Methods. DNA samples were studied from 205 children, 92 girls and 113 boys, with short stature of unknown cause and their parents. The patient cohort included 39 cases of SRS, 91 patients with IUGR and subsequent postnatal short stature, and 75 patients with postnatal growth retardation only. MatUPD7 was screened for by genotyping DNA samples from the patient, mother, and father with 13 chromosome-7-specific polymorphic microsatellite markers. Results. Six (3%) of 205 matUPD7 cases were observed exclusively among 39 (15%) SRS patients studied. Patients with IUGR and/or postnatal growth retardation and with dysmorphic features did not reveal cases of matUPD7. Conclusions. Our results indicate that matUPD7 cases are predominantly observed among patients meeting the criteria of SRS, and matUPD7 is not a common cause for growth retardation. Genetic screening for cases of matUPD7 among growth-retarded patients should be focused on patients with severe IUGR and features of SRS. In addition, matUPD7 screening is advisable in individuals with cystic fibrosis and other recessive disorders mapped to chromosome 7 who have unusually short stature.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology, and Child Health

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