SCIENTIFIC BACKGROUND

ADAMTS10, ARHGAP31, CHD7, CREBBP, DOCK6, EHMT1, EOGT, EP300, EVC, EVC2, FBN1, FBN2, FLNA, FOXC1, GPC3, JAG1, KDM6A, KMT2D, MED12, MGP, MYH11, NIPBL, NOTCH1, NOTCH2, NSD1, PITX2, RBM10, RBPJ, SALL1, SALL4, SEMA3E, TBX3, TBX5, TFAP2B, TGFBR1, TGFBR2, ZEB2

Scientific Background

The molecular basis of many CHD syndromes has been identified. Monogenic syndromes can include, among others, Holt-Oram, Char, Ellis-van Creveld, Adams-Oliver and Kabuki syndrome. Holt-Oram syndrome is an autosomal dominant disorder most commonly involving the atrial or ventricular septum (ASD or VSD). 70% of cases are caused by a heterozygous pathogenic variant in TBX5. Char syndrome is autosomal dominantly inherited with patent ductus arteriosus (PDA) as the primary cardiac finding, but also other heart defects such as VSD have been reported. ~50% of families with a clinical diagnosis for Char syndrome have a heterozygous pathogenic variant in TFAP2B. Ellis-van Creveld syndrome (EVC) is an autosomal recessive skeletal dysplasia associated with a primary atrial septation defect resulting in a common atrium. Two-thirds of cases of EVC are caused by homozygous or compound heterozygous variants in EVC or EVC2. Adams-Oliver syndrome (AOS) can be inherited autosomal dominantly or recessively. Malformations can include heart, scalp and limbs. Pathogenic variants in ARHGAP31, DOCK6, RBPJ, EOGT, NOTCH1, and DLL4 have been reported. Kabuki syndrome (KS) has both X-linked and autosomal dominant pathogeneses. CHDs occur in 40% to 70% of individuals with KS. The most common cardiac malformations are coarctation of the
aorta, ASD, and VSD. KS is mainly caused by pathogenic variants in the KMT2D and KDM6A genes.

 

References

Pierpont et al. 2018, Circulation. Nov 20;138

GENES

ADAMTS10, ARHGAP31, CHD7, CREBBP, DOCK6, EHMT1, EOGT, EP300, EVC, EVC2, FBN1, FBN2, FLNA, FOXC1, GPC3, JAG1, KDM6A, KMT2D, MED12, MGP, MYH11, NIPBL, NOTCH1, NOTCH2, NSD1, PITX2, RBM10, RBPJ, SALL1, SALL4, SEMA3E, TBX3, TBX5, TFAP2B, TGFBR1, TGFBR2, ZEB2
How to order

LATEST ARTICLES

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more

Here you can read the winning essays from the first, annual DNA essay competition on the subject of "How unfolding the DNA code can help with precisi...

Read more

Introduction Our voices are as unique as our fingerprints! Although there are people whose voices might sound alike, there are no two voices exact...

Read more

Not everyone likes winter. For people who do not enjoy the cold weather, or having to put on a thick coat to go outside, a winter can be a source of ...

Read more