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A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2
Journal article   Open access   Peer reviewed

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

Swati R Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M Melikishvili, Sue Moyer Harasink, Harpreet Pall and Philip F Giampietro
Molecular genetics & genomic medicine, v 8(3), pp e1078-n/a
Mar 2020
DOI: https://doi.org/10.1002/mgg3.1078
PMID: 31951325
Featured in Collection :   UN Sustainable Development Goals @ Drexel
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https://doi.org/10.1002/mgg3.1078View
Published, Version of Record (VoR)CC BY-NC-ND V4.0,  Open

Abstract

Chromosome Duplication Chromosomes, Human, X - genetics Craniofacial Abnormalities - genetics Craniofacial Abnormalities - pathology Fetal Growth Retardation - genetics Fetal Growth Retardation - pathology Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Humans Infant Male Microtubule-Associated Proteins - genetics Myelin Proteolipid Protein - genetics Syndrome Transcription Factors - genetics
The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus-Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region. We report on a male infant with intrauterine growth retardation (IUGR) who developed head titubation and spasticity during his postnatal hospital course. Chromosome microarray revealed a 6.7 Mb interstitial duplication of Xq22.2q22.3. Fluorescence in situ hybridization showed that the patient's mother also possessed the identical duplication in the Xq22.3q22.3 region. Among the 34 OMIM genes in this interval, the duplication of the PLP1 (OMIM# 300401) and MID2 (OMIM# 300204) appears to be the most significant contributors to the patient's clinical features. Mutations and duplications of PLP1 are associated with X-linked recessive Pelizaeus-Merzbacher disease (PMD). A single case of a Xq22.3 duplication including the MID2 has been reported in boy with features of FG syndrome. However, our patient's clinical features are not consistent with the FG syndrome phenotype. Our patient's clinical features appear to be influenced by the PLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.

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Collaboration types
Domestic collaboration
Web of Science research areas
Genetics & Heredity
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