Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2

American Journal of Medical Genetics. Part a
Aimé LumakaK Devriendt

Abstract

Deletions in chromosome 14q22-23 have been associated with variable manifestations including malformations of the eye, limbs, palate, and brain, and with developmental and growth delay. Haploinsufficiency of BMP4, OTX2 and possibly SIX6 are thought to contribute to the phenotype. We present a three generation family with four individuals carrying a 2.79 Mb microdeletion 14q22.1-22.2 encompassing BMP4 but not OTX2 nor SIX6. The highly variable manifestations in this family range from multiple congenital malformations with Robin sequence, microphthalmia, postaxial polydactyly, and developmental delay in the index patient to cleft uvula, growth delay, and mild developmental delay in her sister. The adults have a normal intelligence, postaxial polydactyly, and short stature or early cataract. Genotype-phenotype correlations suggest that the severity of eye manifestations in 14q22 deletions are influenced by the size of the deletion, but the marked intrafamilial variability observed in this family, as well as in familial BMP4 or OTX2 intragenic mutations points to additional modifiers outside this region.

References

Apr 1, 1991·Journal of Medical Genetics·C P BennettM J Seller
May 30, 1998·American Journal of Medical Genetics·E LemyreM Lambert
Jun 10, 2003·American Journal of Medical Genetics. Part a·M E AhmadKiran Kucheria
Jul 22, 2004·American Journal of Medical Genetics. Part a·M E GallardoP Bovolenta
Apr 23, 2005·American Journal of Human Genetics·Nicola K RaggeIsabel M Hanson
Jul 13, 2006·American Journal of Medical Genetics. Part a·Leisha D NolenRobyn V Jamieson
May 13, 2008·Molecular Cytogenetics·Liesbeth BackxJoris R Vermeesch
Aug 30, 2008·The Journal of Clinical Endocrinology and Metabolism·Daniel DiaczokSally Radovick
Mar 3, 2009·American Journal of Human Genetics·Satoshi SuzukiJeffrey C Murray
Aug 18, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Mansoureh TabatabaeifarUNKNOWN ESCAPE Trial Group
May 22, 2010·Clinical Genetics·K F SchilterE V Semina

❮ Previous
Next ❯

Citations

Feb 27, 2015·Frontiers in Pediatrics·Prashant Kumar Verma, Ashraf A El-Harouni
Jan 10, 2016·Cytokine & Growth Factor Reviews·Daniel GrafYuji Mishina
May 27, 2014·European Journal of Medical Genetics·Kathleen A Williamson, David R FitzPatrick
May 6, 2019·European Journal of Human Genetics : EJHG·Patrick R BlackburnDusica Babovic-Vuksanovic
Jan 4, 2020·European Journal of Human Genetics : EJHG·Jonathan EintrachtMariya Moosajee
Dec 7, 2013·American Journal of Medical Genetics. Part a·María Luisa Martínez-FernándezMaría Luisa Martínez-Frías
Oct 17, 2020·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Marie Anne RoelandtAnna Verdonck

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.