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RV hypoplasia
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Genes for phenotype 07.02.00:RV hypoplasia
Non-syndromic
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Syndromic
| CHD7 
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- Support: unconfirmed: a single case report
- References: PMID:16155193 (population study with screening of similar CHD patients and normal controls )
- Syndromes: CHARGE syndrome (OMIM:214800): Coloboma, Heart defect (ASD, VSD, and parachute mitral valve, ToF), Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness.
- Incidence: 69 mutations in CHD7 were found in 47 out of 107 index patients with CHARGE phenotype, 31 out of 47 patients had a congenital heart defect, of which 1 patient with hypoplastic right heart syndrome (Jongmans et al., 2006).
- Comments:
- Studies: (1)
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- Reference: PMID:16155193
- Incidence: 1/47 patients
- Comments: Jongmans et al. performed mutation analysis in series of 107 index patients with CHARGE phenotype and found 69 CHD7 mutations in 47 patients. Two mutations were recurrent, and all others were unique. We detected 31 nonsense, 17 frame shift, 13 splice site, and 8 missense mutations scattered throughout the gene. Thirty one (66%) patients had a congenital heart defect. Fourteen (30%) patients had major heart defects: 6 tetralogy of Fallot, 2 double-outlet right ventricle (1 DORV combined with hypoplastic left heart and AVSD), 3 isolated hypoplastic left heart syndrome, 1 hypoplastic right heart syndrome, 1 agenesis of the pulmonary valve combined with hypoplastic left heart, and one Shone’s complex. The other patients had solitary patent ductus arteriosus beyond infancy (n=3), patent ductus arteriosus combined with atrium septum defect, and/or ventricular septum defect (n=6) or a solitary septal defect (n=4).
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Regions for phenotype 07.02.00:RV hypoplasia
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Translocations 07.02.00:RV hypoplasia
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Patients reports for 07.02.00:RV hypoplasia
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