A Patient With Arthrogryposis And Hypotonia
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1 A Patient With Arthrogryposis And Hypotonia History Normal pregnancy nuchal lucency Chromosomes by CVS 46XX Normal fetal echocardiogram at 19 weeks Physical at birth camptodactyly arachnodactyly and long feet a midline facial nevus flammeus hypotonia
2 Clinical Course failure to thrive weight below 1 st percentile, height at 5 th % delayed walking until 24 months normal cognitive development Physical at 18 months decreased bulk in the appendicular and axial muscles, inverted nipples with diminished subcutaneous fat, low tone and diminished reflexes throughout
3
4 Bifid Uvula Metopic ridge Retrognathia Hypertelorism Tubular nose Malar Hypoplasia Axial > Appendicu ular weakness Minimal subcutan neous fat Weight below 1 st Percentile Normal aortic root dimensions Normal skin Normal wound he ealing Normal palatal arc ch Normal cognitive function
5 Working up a Sporadic Candidate Genes: Candidate Genes: Transcriptome: Exome: Related Syndromes Implicated Pathways Interactome Site of Pathology Expression + Sequence Sequence
6 camptod dactyly arachnod dactyly MVP joint laxit ty hypomyoplasia aortic dilitation scoliosis dolichostenomelia pectus deformity pes plan nus lens disl location MFS
7 camptod dactyly arachno odactyly MVP joint laxi ity hypomyoplasia aortic dilitation scoliosis s dolichostenomelia pectus deformity pes plan nus lens disl location MFS
8 BEALS large joint PDA, VSD, ASD contractures ear deformity camptodactyly y arachnodactyl ly MVP scoliosis hypomyoplasia aortic dilitation dolichostenomelia pectus deformity joint laxity MFS pes planus lens dislocat tion
9 BEALS large joint PDA, VSD, ASD contractures ear deformity camptodactyly arachnodactly MVP scoliosis aortic dilitation hypomyoplasia pectus deformity dolichostenomelia joint laxity MFS pes planus lens disloc cation
10 A New Aortic Aneurysm Syndrome (> 200 families) Like Marfan syndrome: -Curvature of spine -Chest wall deformity -Long fingers -Aortic root aneurysm Unique: - widely-spaced eyes - arterial tortuosity - cleft palate/bifid uvula - diffuse aneurysms -prematuree skull fusion - rupture w/ small -club foot deformity dimensions -congenital heart disease -death@ 26 y.o. (PDA, BAV, ASD) Loeys-Dietz syndrome (LDS)
11 BEALS LDS large joint blue sclerae PDA, VSD, ASD contractures vascular tortuosity ear deformity hypertelorism camptodactyl ly bifid uvula arachnodactly MVP joint laxity hypomyoplasia scoliosis aortic dilitation dolichostenomelia pectus deformity MFS pes planus lens dislocati ion
12 Vascular Ehlers- Danlos 4 Arterial Tortuosity Tetraology of Fallot with Aneurysm Marfan CO L3A1 AD Dom Neg FLNA XD FBN1 Haploinsufficiency GLUT10 AR LOF Aortic Aneurysm TGFb TGFBR1/2 Gain of Function FBLN4 AR, LOF Loeys- Dietz Recessive Cuta Laxa
13 BEALS LDS large joint blue sclerae PDA, VSD, ASD contractures vascular tortuosity ear deformity hypertelorism camptodactyl ly bifid uvula arachnodactly MVP joint laxity hypomyoplasia scoliosis aortic dilitation dolichostenomelia pectus deformity MFS pes planus lens dislocati ion
14 LDS BEALS blue sclerae large joint PDA, VSD, ASD vascular tortuosity contractures hypertelorism ear deformity camptodactyl ly bifid uvula arachnodactly MVP joint laxity hypomyoplasia scoliosis aortic dilitation dolichostenomelia pectus deformity CES MFS muscle weakness pes planus reduced fat lens dislocati ion hearing loss hyperostosis
15 Key Observations in Bea s Syndrome Hypomyoplasia with Weakness Bifid Uvula and Craniofacial Changes Overlap with Autosomal Dominant Syndromes Wild-type: FBN1 & FBN2 and TGFBRI & II Normal Connective Tissue: skin, great vessels.at risk for vascular disease?
16 A Working Hypothesis Autosomal Dominant New mutation Affects regulatory or signaling pathways involving TGFβ or family member Genetic Model? Haplo-insufficiency Loss of Function Dominant Negative Gain of New Functionn
17 Parents: The Filter for New Variants in the Child ~3M Variants/g New Variations/g/gen or 0-3/ exome Genetics 2000:156, Curr. Biol. 2009:19, 1-5 Nature 2010:
18 Working up a Sporadic Candidate Genes: Rel lated Syndromes Candidate Genes: Imp plicated Pathways Inte eractome Site of Pathology Transcriptome: Exp pression + Sequence Exome: Seq quence
19
20
21 Homozygous Recessives in Child (Parents are heterozygous) 932 dhom-phet 56 novel nucleotide variants 876 known variants including rare alleles Location 5 UTR 101 Coding 184 synonymous 81 non-synonymous Intronic 66 3 UTR 398
22
23 LDS BEALS blue sclerae large joint PDA, VSD, ASD vascular tortuosity contractures hypertelorism ear deformity camptodactyl ly bifid uvula arachnodactly MVP joint laxity hypomyoplasia scoliosis aortic dilitation dolichostenomelia pectus deformity MFS pes planus lens dislocation CES muscle weakness reduced fat hearing loss hyperostosis
24 BEA S SYNDROME camptodactyl ly blue sclerae hypertelorism bifid uvula hypomyoplasia joint laxity pectus deformity pes planus muscle weakness reduced fat
25
26 The Distribution of Nearly Normal
27 Translational Research: Potential Flaws in the Strategy? Favor Specialist over Generalists? Neglect Basic Science? We need details. Corporatize labs even more? Drugs as probes not products? Hand off to who?
28 Managing Beatrice Monitor her vasculature Continue ARAs (ibersartan)? Further the investigation Find other Beatrices
29 The Ultimate Charmer
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