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Chromosome 18q- syndrome is a rare chromosomal disorder in which there is a deletion of part of the long arm (q) of chromosome 18. Deletions of the q arm occur in an estimated 1 in 55,000 newborns worldwide.

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Edwards syndrome is a genetic condition that causes physical growth delays during fetal development. This condition occurs when a person has an extra copy of chromosome 18, which occurs randomly. Edwards syndrome occurs in an estimated 1 out of every 5,000-6,000 live births but around 95% of fetuses don't survive a full term.

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Edwards syndrome typically includes poor growth before and after birth, severe developmental delays or learning problems, and multiple birth defects. Some birth defects include a cleft lip and palate, deafness, developmental uterine abnormalities, and atrial septal defect.

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During pregnancy, a healthcare provider can perform an amniocentesis, chorionic villus sampling, and routine screening in order to diagnose Edwards syndrome. There are currently no cures for this syndrome Babies who do survive being born are treated with comfort care, and treatment is unique for every child, based on the severity of their diagnosis. Some treatment options might include cardiac treatment, assisted feeding, and psychosocial support.

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Some common features include short stature, hypotonia, foot abnormalities, eye movement disorders, heart abnormalities such as atrial or ventricular septal defects, facial defects. People with deletions that include the TCF4 gene usually have symptoms of Pitt-Hopkins syndrome such as severe intellectual disability in addition to 18q- symptoms.

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18q deletion syndrome is considered to be an autosomal dominant condition that occurs as a random event during the formation of reproductive cells or fetal development. In some cases, it can be inherited from an affected parent with mild signs or from an unaffected parent who carries a chromosomal rearrangement called a balanced translocation. This individual usually doesn't have any related health problems; however, the translocation becomes unstable as it is passed down causing extra or missing genetic material.

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Chromosome 18q- syndrome may be suggested prenatally by ultrasounds, amniocentesis, or chorionic villus sampling; however, the disorder is usually diagnosed after birth through clinical evaluation.

Treatment is directed toward the specific symptoms of each individual. This may require coordinated efforts of a team of medical professionals and surgical correction of some abnormalities. In some cases, anticonvulsant medications may be used but early intervention is the most important treatment.

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Complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations. It can affect several parts of the body such as the brain, kidneys, heart, and skeletal muscles. The prevalence of mitochondrial complex III deficiency is unknown.

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NKX2-5 belongs to the NK2 family of homeobox genes. It functions as a key regulator in cardia morphogenesis, regulating the transcription of various genes involved in the process. Studies in humans have shown consistent expression of the NKX2-5 gene only in the heart, establishing its function in human heart development.

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Mutations in the homeodomain protein NKX2-5 result in a huge number of CHDs including AD (atrial septal defect), VSD, double outlet right ventricle, and cardiac outflow tract defects. In addition, to the best of our knowledge, this is the first time an NKX2-5 mutation has been discovered to be associated with ventricular noncompaction.

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The prevalence and spectrum of NKX2-5 mutation in patients with ASD and AVB remain to be elucidated. Genetic analysis revealed that the mutation co-segregated with ASD and AVB with complete penetrance. Functional evaluation showed that the NKX2-5 mutant had no transcriptional activity and the mutation disrupted the synergistic activation between NKX2-5 and GATA binding protein 4. It has been found that NKX2-5 mutations occur in a small percentage of patients with various CHD.

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Mutational analysis is carried out using direct DNA sequencing analysis. The two exons and exon-intron boundaries of NKX2-5 are amplified by polymerase chain reactions and sequenced directly to identify a mutation. There are no treatments for this specific mutation; however, there are treatments for the symptoms of congenital heart defects such as heart surgery, fetal cardiac intervention, or medication. In addition, there is hope for new therapeutic approaches to treat heart diseases by understanding the activities of mutant NKX2-5 and other transcription factors across the whole genome.

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Chromosome 18q- Syndrome. NORD (National Organization for Rare Disorders). https://rarediseases.org/rare-diseases/chromosome-18q-syndrome/.

Chromosome 18q- Syndrome. NORD (National Organization for Rare Disorders). https://rarediseases.org/rare-diseases/chromosome-18q-syndrome/#:~:text=Chromosome%2018q%2D%20syndrome%20(also%20known.

Chung I-M, Rajakumar G. 2016. Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player. Genes. 7(2):6. doi:10.3390/genes7020006.

Complex III Deficiency | UMDF. [accessed 2022 Oct 1]. https://www.umdf.org/complex-iii-deficiency/#:~:text=Treatment%3A%20As%20with%20all%20mitochondrial.

Distal 18q deletion syndrome: MedlinePlus Genetics. medlineplusgov. [accessed 2022 Oct 1]. https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/#inheritance.

Edwards Syndrome (Trisomy 18): Genetic Condition, Symptoms & Outlook. 2021 Dec 13. Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome#symptoms-and-causes.

Entry - #614089 - ATRIAL SEPTAL DEFECT 3; ASD3 - OMIM. wwwomimorg. [accessed 2022 Oct 1]. https://www.omim.org/entry/614089.

Finsterer J, Zarrouk-Mahjoub S. 2013. Cardiac Manifestations of Mitochondrial Disorders. Texas Heart Institute Journal. 40(5):634–635. [accessed 2022 Oct 1]. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853811/.

Mayo clinic. 2018. Atrial septal defect (ASD) - Symptoms and causes. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/atrial-septal-defect/symptoms-causes/syc-20369715.

Mitochondrial complex III deficiency nuclear type 5 (Concept Id: C3554608) - MedGen - NCBI. wwwncbinlmnihgov. [accessed 2022 Oct 1]. https://www.ncbi.nlm.nih.gov/medgen/767522.

Mitochondrial complex III deficiency: MedlinePlus Genetics. 2014 Apr 1. medlineplusgov. [accessed 2022 Oct 1]. https://medlineplus.gov/genetics/condition/mitochondrial-complex-iii-deficiency/#frequency.

MT-CYB gene: MedlinePlus Genetics. medlineplusgov. [accessed 2022 Oct 1]. https://medlineplus.gov/genetics/gene/mt-cyb/#resources.

Ouyang P, Saarel E, Bai Y, Luo C, Lv Q, Xu Y, Wang F, Fan C, Younoszai A, Chen Q, et al. 2011. A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death. Clinica Chimica Acta. 412(1-2):170–175. doi:10.1016/j.cca.2010.09.035.

Philadelphia TCH of. 2014 May 9. Mitochondrial Disease. wwwchopedu. https://www.chop.edu/conditions-diseases/mitochondrial-disease#:~:text=Mitochondrial%20disease%20diagnosis.

Posch MG, Perrot A, Berger F, Özcelik C. 2009. Molecular genetics of congenital atrial septal defects. Clinical Research in Cardiology. 99(3):137–147. doi:10.1007/s00392-009-0095-0.

Sabouni MA, Benedict D, Alom MS, Petty S, Patel K. 2018. Atrial septal defect can be easily missed in chromosome 18q deletion syndrome. Oxford Medical Case Reports. 2018(10). doi:10.1093/omcr/omy076.

Xu Y-J, Qiu X-B, Yuan F, Shi H-Y, Xu L, Hou X-M, Qu X-K, Liu X, Huang R-T, Xue S, et al. 2017. Prevalence and spectrum of NKX2.5 mutations in patients with congenital atrial septal defect and atrioventricular block. Molecular Medicine Reports. 15(4):2247–2254. doi:10.3892/mmr.2017.6249. https://pubmed.ncbi.nlm.nih.gov/28259982/#:~:text=Congenital%20atrial%20septal%20defect%20(ASD.

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Atrial septal defect, myopathy, extreme fatigue, psychomotor delay, hearing impairment, lactic acidosis, poor suck, along with abnormalities dealing with metabolism, digestive system, and other body systems.

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The two most commonly mutated genes involved in mitochondrial complex III deficiency are MT-CYB and BCS1L. Cytochrome B, produced from the MT-CYB gene, is one component of complex III, and the protein produced from BSS1L is critical for the formation of the complex. Mutations involving MT-CYB and BCS1L impair the formation of complex III molecules reducing the activity and oxidative phosphorylation of complex III.

This deficiency is usually inherited in an autosomal recessive pattern but in some cases caused by mutations in the MT-CYB gene, is inherited in a mitochondrial pattern (maternal inheritance).

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There are various methods to examine for mitochondrial diseases. These methods include genetic diagnostic testing, genetic or biochemical tests in affected tissues, and other blood or urine based biochemical markers.

Similar to other mitochondrial diseases, there is no cure for complex III deficiency. However, a variety of treatments such as riboflavin, thiamine, co-enzyme Q10 metabolic therapies, supportive therapy, nutritional management, and exercise may help with management.

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Atrial Septal Defect

An atrial septal defect (ASD) is a hole in the heart between the upper chambers (atria). The hole increases the amount of blood that flows through the lungs and is present at birth.