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Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.

Abstract Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway.
PMID
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Authors

Mayor MeshTerms
Keywords

Congenital Heart Diseases

DAND5

Nodal signaling

allelic variation

laterality defects

Journal Title bmc medical genetics
Publication Year Start




PMID- 28738792
OWN - NLM
STAT- MEDLINE
DA  - 20170725
DCOM- 20170802
LR  - 20170803
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Jul 24
TI  - Functional study of DAND5 variant in patients with Congenital Heart Disease and
      laterality defects.
PG  - 77
LID - 10.1186/s12881-017-0444-1 [doi]
AB  - BACKGROUND: Perturbations on the Left-Right axis establishment lead to laterality
      defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in 
      the last decade, it has been reported that the etiology of isolated cases of CHDs
      or cases of laterality defects with associated CHDs is linked with variants of
      genes involved in the Nodal signaling pathway. METHODS: With this in mind, we
      analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can
      arise from initial perturbations in the formation of the Left-Right axis and 40
      unrelated ethnically matched healthy individuals as a control population. Genomic
      DNA was extracted from buccal epithelial cells, and variants screening was
      performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was
      conducted in order to determine the functional effect of the variant found.
      RESULTS: In this work, we report two patients with a DAND5 heterozygous
      non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein
      (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left
      isomerism, ventricular septal defect with overriding aorta and pulmonary atresia,
      while patient 2 presents ventricular septal defect with overriding aorta, right
      ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of
      Fallot phenotype). The functional analysis assay showed a significant decrease in
      the activity of this variant protein when compared to its wild-type counterpart. 
      CONCLUSION: Altogether, our results provide new insight into the molecular
      mechanism of the laterality defects and related CHDs, priming for the first time 
      DAND5 as one of multiple candidate determinants for CHDs in humans.
FAU - Cristo, Fernando
AU  - Cristo F
AD  - Stem Cells and Development Laboratory, CEDOC, NOVA Medical School / Faculdade de 
      Ciencias Medicas, Universidade Nova de Lisboa, Lisboa, Portugal.
AD  - Center for Biomedical Research (CBMR), Universidade do Algarve, Faro, Portugal.
AD  - Biomedical Sciences, Universidade do Algarve, Faro, Portugal.
AD  - Regenerative Medicine Program, Biomedical and Medicine Sciences Department,
      Universidade do Algarve, Faro, Portugal.
FAU - Inacio, Jose M
AU  - Inacio JM
AD  - Stem Cells and Development Laboratory, CEDOC, NOVA Medical School / Faculdade de 
      Ciencias Medicas, Universidade Nova de Lisboa, Lisboa, Portugal.
FAU - de Almeida, Salome
AU  - de Almeida S
AD  - Medical Genetics Service, Centro Hospitalar Lisboa Central (CHLC), EPE, Lisboa,
      Portugal.
FAU - Mendes, Patricia
AU  - Mendes P
AD  - Departamento Materno-Infantil, Centro Hospitalar do Algarve, EPE, Faro, Portugal.
FAU - Martins, Duarte Saraiva
AU  - Martins DS
AD  - Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal.
FAU - Maio, Jose
AU  - Maio J
AD  - Departamento Materno-Infantil, Centro Hospitalar do Algarve, EPE, Faro, Portugal.
FAU - Anjos, Rui
AU  - Anjos R
AD  - Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal.
FAU - Belo, Jose A
AU  - Belo JA
AD  - Stem Cells and Development Laboratory, CEDOC, NOVA Medical School / Faculdade de 
      Ciencias Medicas, Universidade Nova de Lisboa, Lisboa, Portugal.
      [email protected]
AD  - NOVA Medical School | Faculdade de Ciencias Medicas, Universidade Nova de Lisboa,
      Edificio CEDOC II, Rua Camara Pestana n. degrees 6, 1150-082, Lisboa, Portugal.
      [email protected]
LA  - eng
PT  - Journal Article
DEP - 20170724
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (DAND5 protein, human)
RN  - 0 (Intercellular Signaling Peptides and Proteins)
RN  - 0 (NODAL protein, human)
RN  - 0 (Nodal Protein)
SB  - IM
MH  - Female
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Heart Defects, Congenital/*genetics/physiopathology
MH  - Heart Septal Defects, Ventricular/*genetics/physiopathology
MH  - Humans
MH  - Intercellular Signaling Peptides and Proteins/*genetics
MH  - Male
MH  - Mutation
MH  - Nodal Protein/*genetics
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Signal Transduction/genetics
PMC - PMC5525210
OTO - NOTNLM
OT  - Congenital Heart Diseases
OT  - DAND5
OT  - Nodal signaling
OT  - allelic variation
OT  - laterality defects
EDAT- 2017/07/26 06:00
MHDA- 2017/08/03 06:00
CRDT- 2017/07/26 06:00
PHST- 2017/05/16 [received]
PHST- 2017/07/13 [accepted]
AID - 10.1186/s12881-017-0444-1 [doi]
AID - 10.1186/s12881-017-0444-1 [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Jul 24;18(1):77. doi: 10.1186/s12881-017-0444-1.