Academia

10 frequently asked question about mitochondrial inheritance

August 31 2021

Here are some frequently asked questions (and their answers) about mitochondrial inheritance. For a general introduction to the topic you can read Mitochondrial Inheritance and Mitochondrial Genome. 1. Is mitochondrial DNA exclusively of maternal origin? Mitochondrial DNA is of almost exclusively maternal origin, even if a very little amount, clinically irrelevant and without any implication for genetic counseling, is also given by the father. 2.

Thanatophoric dysplasia

August 4 2021

Panel testing recommended at Breda Genetics for this condition: Skeletal dysplasias, extended (ACP5, AGPS, ALPL, ARSE, B3GAT3, BGN, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSGALNACT1, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, FZD2, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LBR, P3H1, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NEK1, NKX3-2, NOG, NSDHL, PAM16, PAPSS2, PCYT1A, PITX1,

Autosomal recessive inheritance

August 3 2021

Two mutated alleles Autosomal recessive inheritance is defined as the manifestation of disease only when both the copies of a gene (maternal and paternal) are mutated. In other words, it is necessary that the final protein is quantitatively or qualitatively impaired in double dose. In autosomal recessive inheritance, parents are typically healthy carriers of a disease causing-mutation. De novo mutations, although theoretically possible, are not

Whole genome sequencing

August 2 2021

Whole sequencing of human DNA Whole-genome sequencing (WGS) consists of the sequencing of the entire genome, i.e, of all the human DNA contained in the cell nucleus (about 3 billion nucleotides). With this technique, both coding and non-coding regions of the DNA are sequenced. As such, therefore, whole-genome sequencing includes whole-exome sequencing (i.e. of all coding regions of a gene, called exons) plus intergenic regions, that

Familial non-Hodgkin lymphoma

August 2 2021

Non-Hodgkin lymphoma (NHL) is an immunological cancer developing from lymphocytes. It mainly manifests as painless surface lymph nodes swelling (neck, armpit, groin), but sometimes it can also occur in the digestive system, in the central nervous system, in the bone marrow or in the skin. Several histopathological subtypes exist, which can only be differentiated on the basis of biopsy results. However, substantial differentiation can be done

Bone marrow failure

July 30 2021

Panel testing recommended at Breda Genetics for this condition: Bone marrow failure (BRCA2, BRIP1, ERCC4, PALB2, RAD51C, SLX4, AK2, ANKRD26, ATM, ATR, ATRX, C15ORF41, CBL, CDAN1, CEBPA, CTC1, DKC1, ELANE, ETV6, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCO, FANCP, FANCQ, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LIG4, MPL, NBN, NHP2, NOP10, PAX5, RMRP, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24,

Rare genetic forms of obesity

July 30 2021

Panel testing recommended at Breda Genetics for this condition: Obesity (MC4R, LEP, LEPR, POMC, PCSK1, CELA2A, DYRK1B, CEP19, NR0B2, PPARG, ADCY3, NCOA1, SIM1, BDNF) Summary Obesity is a condition in which a person has an excess of body fat and weight. With its complications, obesity is a major global public health concern. It has a multifactorial etiology that includes genetic, environmental, socioeconomic, and behavioral or

lcnRNA: long non-coding RNA

July 29 2021

Does non-coding RNA exist? What do they need? How many types are known? lncRNA is an acronym of long non-coding RNA. lncRNAs, as well as miRNAs, siRNA, aRNA, piwiRNA and other types of RNA, belong to the group on non-coding RNAs (ncRNA). Although their action mechanisms remain poorly understood, their pivotal role in several biological processes is taken for granted. Indeed, it has been shown

Polycystic kidney disease

July 29 2021

Panel testing recommended at Breda Genetics for this condition: Pan29 – Polycystic kidney disease and differential diagnosis, extended (DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC61A1, SEC63, TSC1, TSC2, UMOD, VHL) Summary Polycystic kidney disease (PKD) is a rare genetic disorder characterized by the development of cysts in the kidneys. Cysts are fluid-filled sacs that can vary in number and size. Their formation

Sudden death

July 27 2021

Panel testing recommended at Breda Genetics for this condition: Sudden death (ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CASQ2, CAV3, CSRP3, DES, DPP6, DSC2, DSG2, DSP, DTNA, FBN1, FGF12, GJA5, GPD1L, CN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, LRP6, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NPPA, NUP155, PKP2, PLN, PRKAG2, RANGRF, RBM20,

Maple syrup urine disease

July 27 2021

Panel testing recommended at Breda Genetics for this condition: Maple syrup urine disease (BCKDHA, BCKDHB, DBT, DLD) Summary Maple syrup urine disease (MSUD) is an autosomal recessive rare genetic disease caused by a defect in the branched-chain alpha-keto acid dehydrogenase enzyme (BCKAD), which represents the key step in the catabolism of branched-chain amino acids. The classic form is characterized by the peculiar maple sirup odor of newborn earwax

Dyskeratosis congenita

July 26 2021

Panel testing recommended at Breda Genetics for this condition: Congenital dyskeratosis and differential diagnosis (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53) Summary Dyskeratosis congenita (DC), also called Zinsser-Cole-Engman syndrome, is a multisystem disorder due to telomere loss. All affected individuals have a telomeric shortening increased in relation to age. The disease was first described by Zinsser in 1906, and is characterized

Factor V Leiden: all the answers

July 23 2021

Factor V of Leiden and thrombophilia: how many questions! What is Factor V Leiden? If I have the Factor V Leiden, have I a higher risk for deep veins thrombosis? Am I at risk of miscarriage with factor V Leiden? The factor V Leiden has been extensively studied in recent years. In the face of initial evidence that attributed certain clinical meanings to this variant

Parkinson disease

July 23 2021

Panel testing recommended at Breda Genetics for this condition: Parkinsons disease (ADH1C, ATP13A2, ATP1A3, ATP6AP2, ARSD, CHCHD2, CSF1R, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG, PRKRA, SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, UCHL1, VPS13C, VPS35) Summary Parkinson disease (PD) is the second most common neurodegenerative disorders in elder population and it affects more than

Practical guide to genetic testing in pediatrics

July 21 2021

If you are not a Geneticist and you have to approach the world of genetic testing, you may have some difficulty in choosing the best test for your patient. In recent years, thanks to the advancement of Next-Generation Sequencing (NGS) technologies, the lowering of their costs and the increase in knowledge about genetic diseases, the execution of a genetic test is increasingly becoming one of

Primary ciliary dyskinesia

July 13 2021

Panel testing recommended at Breda Genetics for this condition: Pan28 – Primary ciliary dyskinesia (ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP221, CFAP298, CFAP300, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC6, LRRC56, MCIDAS, NEK10, NME5, NME8, OFD1, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, STK36, TTC12, TTC25, ZMYND10) Summary Primary ciliary dyskinesia (PCD) is

WES and mutation detection rate: has something changed?

July 8 2021

Whole exome sequencing (WES) is increasingly used in clinical practice, especially in pediatrics, to identify the cause in patients with a suspicion of genetic disease or for large studies whose purpose is to identify new disease genes. Thanks to technological advancement, lowering costs and reduction of the time required for diagnosis, massive sequencing has revolutionized the approach to the study of genetic diseases. But nowadays,

Genetic testing and sport: can sudden death be prevented?

July 2 2021

Anyone, supporter or not, was shocked by what happened during the Denmark-Finland match of the UEFA EURO 2020. A player from the Danish national team, Christian Eriksen, collapsed due to cardiac arrest. Timely intervention was provided first of all by his teammates and subsequently by the specialized medical team, who, thanks also to the help of the automated external defibrillator (AED), saved his life. Although

Amyloidosis

June 16 2021

Panel testing recommended at Breda Genetics for this condition: Pan269 Hereditary Amyloidosis (APOA1, APP, B2M, CST3, GPNMB, GSN, FGA, IL31RA, ITM2B, LYZ, OSMR, PRNP, TACSTD2, TTR) Summary Amyloidoses are a group of rare disorders caused by extracellular deposition of insoluble fibers made of misfolded proteins, which take the name of “amyloid”. These deposits damage tissues and interfere with their normal function. Nowadays, more than 30 forms of

Thalassemia

June 14 2021

Summary Thalassemia refers to a group of hereditary quantitative hemoglobinopathies, blood disorders that derive from a quantitative reduction of the synthesis of the globin chains of hemoglobin. On the basis of the genetic defect, they are divided into alpha and beta-thalassemia and are both inherited in an autosomal recessive manner. Thalassemias have wide phenotypic variability, from asymptomatic individuals up to very poor prognosis. Clinically, the

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