Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Alpa Sidhu; Michael Hankerd; Kelly Kennelly; Melissa Kristofice; Salah Ebrahim

doi:10.1016/j.ejmhg.2014.12.002

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Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

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Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice and Salah Ebrahim

The Egyptian journal of medical human genetics, Vol.16(2), pp.199-204

04/2015

DOI: 10.1016/j.ejmhg.2014.12.002

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Abstract

We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray analysis. The 17p12 microduplication was approximately 1.32Mb in size and contained eleven genes including the peripheral myelin protein 22 (PMP22), while the Xp21.1–Xp21.2 microduplication was estimated to be 626Kb in size and contained part of the dystrophin (DMD) gene. Constitutional interstitial microduplication of 17p12 segment encompassing the PMP22 gene has been reported in individuals with Charcot–Marie–Tooth disease type 1A. Defects in the DMD gene (deletion, duplication, or mutation) are associated with Duchenne and Becker muscular dystrophies (DMD and BMD). Combined microduplications of Xp21/DMD with 17p12/PMP22 are extremely rare with only one published report of a male patient with changes in both the DMD and PMP22 genes.

Combined microduplications

PMP22

Array comparative genomic hybridization (array CGH)

DMD

Chromosomal microarray

Dystrophin gene

CMT1A

Details

Title: Subtitle: Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A
Creators: Alpa Sidhu - Division of Genetics & Metabolic Disorders, Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI, USA
Michael Hankerd - Detroit Medical Center University Laboratories, Cytogenetics Laboratory, Detroit, MI, USA
Kelly Kennelly - Department of Pediatric Neurology, Wayne State University School of Medicine, Detroit, MI, USA
Melissa Kristofice - Detroit Medical Center University Laboratories, Cytogenetics Laboratory, Detroit, MI, USA
Salah Ebrahim - Detroit Medical Center University Laboratories, Cytogenetics Laboratory, Detroit, MI, USA
Resource Type: Journal article
Publication Details: The Egyptian journal of medical human genetics, Vol.16(2), pp.199-204
DOI: 10.1016/j.ejmhg.2014.12.002
ISSN: 1110-8630
eISSN: 2090-2441
Publisher: Elsevier B.V
Language: English
Date published: 04/2015
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984093489602771

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