Background
Subjects and methods
Human subjects
Cytogenetic, molecular cytogenetic and molecular analysis
Gene ontology, gene expression, protein-protein interaction studies
Results
Subject 1
Subject 2
Subject 3
Subject 4
Subject 5
Subject 6
Subject 7
Subject 8
Annotation analysis of the region
Discussion
Subject | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
---|---|---|---|---|---|---|---|---|
Gender | Female | Male | Male | Female | Male | Male | Male | Female |
Event | Deletion | Deletion | Deletion | Deletion | Deletion | Duplication | Duplication | Duplication |
Origin |
de novo
|
de novo
|
de novo
|
de novo
|
de novo
|
de novo
| N/A | N/A |
Minimum Size | 1.42 Mb | 1.08 Mb | 0.68 Mb | 0.796 Mb | 0.08 Mb | 0.14 Mb | 8.06 Mb | 1.08 Mb |
Echo findings | Perimembranous VSD and ASD | TAPVR, VSD, ASD, PDA, left atrial and ventricular hypoplasia, BAV | CoA, multiple muscular VSDs, perimembranous VSD | VSD, PDA | Not done | Normal study | PDA at 8 months of age | Normal study |
Cytoband | 17q25.3 | 17q25.3 | 17q25.3 | 17q25.3 | 17q25.3 | 17q25.3 | 17q25.1-q25.3 | 17q25.3 |
Start position (hg18) | 77,173,756-77,213,237 | 77,546,315-77,555,228 | 77,125,528 | 77,799,839-77,842,711 | 78,452,326- 78,454,234 | 78,457,408- 78,458,509 | 70,528,836- 70,570,936 | 77,546,315-77,555,228 |
End position (hg18) | 78,638,511-78,774,742 | 78,638,511-78,774,742 | 77,809,659 | 78,638,511-78,774,742 | 78,536,478-78,553,241 | 78,599,991- 78,623,171 | 78,638,511-78,774,742 | 78,638,511-78,774,742 |
Age at Last Examination | 8 years | 2 weeks | 5 years, 1 month | 12 years | 2 years, 6 months | 7 years, 5 months | 1 year, 7 months | 8 years |
Brain Imaging | Not done | Diffuse and severe cerebral edema | Ectopic neurohypophysis, adjacent to the hypothalamus | Agenesis of corpus callosum | Chiari I malformation | Thinning of the corpus callosum and cortical dysplasia | Mild to moderate global volume loss | Minimal patchy frontal encephalomalacia bilaterally, linear focus of increased FLAIR signal in left periatrial white matter |
Eye findings | Strabismus | Left eyelid coloboma | Right nasolacrimal duct obstruction | Unknown | Normal | Bilateral congenital cataracts | Mild hyperopia | Normal |
Muscular/ skeletal | Normal stature, mild scoliosis | Rocker-bottom feet bilaterally | Normal stature | Normal stature, bilateral calcaneon-avicular coalition | Normal stature | Limb contractures | Short stature | Normal stature |
Other problems | Polysplenia, unilobar left lung | Unilateral cleft lip, submucous cleft palate, speech apraxia, moderate conductive hearing loss left ear, subglottic stenosis, laryngomalacia, GERD, bilateral undescended testes, glanular hypospadias | TE fistula, tethered cord | Polysplenia, nocturnal hypoventilation | ADHD, psychiatric disorder |
Gene | Annotated MIM entries | MIM IDs | Inheritance | Heterozygous deletion and duplication in subjects |
---|---|---|---|---|
ACTG1
| Baraitser-Winter syndrome 2; Deafness, autosomal dominant 20/26 | 604717; 614583 | AD |
7
|
FSCN2
| Retinitis pigmentosa 30 | 607921 | AD |
7
|
PDE6G
| Retinitis pigmentosa 57 | 613582 | AR |
1, 3, 7
|
ARHGDIA
| Nephrotic syndrome, type 8 | 615244 | AR |
1, 3, 7
|
PYCR1
| Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB | 612940; 614438 | AR |
1, 3, 7
|
ASPSCR1
| Alveolar soft-part sarcoma | 606243 |
1, 2, 3, 7, 8 | |
DCXR
| Pentosuria | 260800 | AR |
1, 2, 3, 7, 8 |
CSNK1D
| Advanced sleep-phase syndrome, familial, 2 | 615224 | AD |
1, 2, 3, 7, 8 |
ZNF750
| Seborrhea-like dermatitis with psoriasiform elements | 610227 | AD |
1, 2, 4, 7, 8 |