Mutation in myosin heavy chain 6 causes atrial septal defect.

[holt-oram syndrome]

Atrial septal defect is one of the most common forms of congenital heart malformation . We identified a new locus linked with atrial septal defect on chromosome 14 q 12 in a large family with dominantly inherited atrial septal defect . The underlying mutation is a missense substitution , I 820 N , in alpha-myosin heavy chain (MYH 6 ), a structural protein expressed at high levels in the developing atria , which affects the binding of the heavy chain to its regulatory light chain . The cardiac transcription factor TBX 5 strongly regulates expression of MYH 6 , but mutant forms of TBX 5 , which cause Holt-Oram syndrome , do not . Morpholino knock-down of expression of the chick MYH 6 homolog eliminates the formation of the atrial septum without overtly affecting atrial chamber formation . These data provide evidence for a link between a transcription factor , a structural protein and congenital heart disease .

Diseases
Validation

Diseases presenting "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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