Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
Joint Authors
Bai, Shaochun
Dempsey, Melissa
Dietz, Harry C.
Das, Soma
Jones, Marilyn C.
Lozada, Anthony
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-02-03
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Hutchinson-Gilford Progeria Syndrome (HGPS) is characterized by the clinical features of accelerated aging in childhood.
Both MAD and HGPS can be caused by mutations in the LMNA gene.
In this study, we describe a 2-year-old boy with overlapping features of MAD and HGPS.
Mutation analysis of the LMNA gene revealed a homozygous missense change, p.M540T, while only the mother carries the mutation.
Uniparental disomy (UPD) analysis for chromosome 1 showed the presence of maternal UPD.
Markers in the 1q21.3–q22 region flanking the LMNA locus were isodisomic, while markers in the short arm and distal 1q region were heterodisomic.
These results suggest that nondisjunction in maternal meiosis followed by loss of the paternal chromosome 1 during trisomy rescue might result in the UPD1 and homozygosity for the p.M540T mutation observed in this patient.
American Psychological Association (APA)
Bai, Shaochun& Lozada, Anthony& Jones, Marilyn C.& Dietz, Harry C.& Dempsey, Melissa& Das, Soma. 2014. Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-477210
Modern Language Association (MLA)
Bai, Shaochun…[et al.]. Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. Case Reports in Genetics No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-477210
American Medical Association (AMA)
Bai, Shaochun& Lozada, Anthony& Jones, Marilyn C.& Dietz, Harry C.& Dempsey, Melissa& Das, Soma. Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-477210
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-477210