All individuals with variants in gene CTNNA1

38 entries on 1 page. Showing entries 1 - 38.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00328133 G005505 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00390249 G005505 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00399531 Fam8Pat8 PubMed: Kury 2022 - F - - - - - - - NDD weight 13.7 (-1.28), height 90 (-2.71), OFC 50 (-0.01); growth failure; developmental/intellectual delay; 2.5y-walk; speech delay, 1y-first words, speech 4y-15 words, mostly communicates by whining or pointing; hypotonia very mildly low tone in extremities; 3m/13m/2y6m-MRI brain stable non-enhancing pineal gland cyst (benign); behavioural anomalies, sensitivity to food textures and sensory input; behavioral problems due to communication difficulties; no cardiac anomalies; exudative vitreoretinopathy, high myopia; no urogenital/kidney anomalies; normal hands; normal feet; feeding difficulties; facial dysmorphism, brachycephaly, square-shaped face, appears hyperteloric, simple ears with underfolding of helices, deep set eyes, wide spaced teeth, upturned nasal tip, long smooth philtrum; tracheomalacia at birth, very mild obstructive sleep apnea and periodic limb movement disorder, tooth abnormality (twin central incisor and large pulp chambers), pilomatricoma of the right temple 1 1 Johan den Dunnen
00415589 A-II:1 PubMed: Saksens 2016 - M - - Dutch - - - - retinal disease BCVA: 20/20(OD) - 20/20(OS); Parafoveal chorioretinal atrophy ODS and peripheral bone spicule-like structures 1 1 LOVD
00415590 A-II:3 PubMed: Saksens 2016 - M - - Dutch - - - - retinal disease BCVA: 20/20(OD) - 20/25(OS); ODS typical butterfly retinopathy in center of macula and extensive bone- spicule like peripheral hyperpigmentation 1 1 LOVD
00415591 A-II:5 PubMed: Saksens 2016 - M - - Dutch - - - - retinal disease BCVA: 20/20(OD) - 20/20(OS); General hypopigmentation with central RPE atrophy and bone spicule-like pigmentations in peripheral retina 1 1 LOVD
00415592 A-II:8 PubMed: Saksens 2016 - M - - Dutch - - - - retinal disease BCVA: 20/50(OD) - 20/200(OS); ODS typical butterfly retinopathy in center of macula with central chorioretinal atrophy 1 1 LOVD
00415593 A-III:2 PubMed: Saksens 2016 - M - - Dutch - - - - retinal disease BCVA: 20/32(OD) - 20/40(OS); Butterfly-shaped pigmented lesion macula ODS without peripheral abnormalities 1 1 LOVD
00415594 A-III:7 PubMed: Saksens 2016 - F - - Dutch - - - - retinal disease BCVA: 20/40(OD) - 20/16(OS); Typical butterfly-shaped hyperpigmentation surrounded by hypopigmentation OD. OS no abnormalities 1 1 LOVD
00415595 A-III:10 PubMed: Saksens 2016 - M - - Dutch - - - - retinal disease BCVA: 20/20(OD) - 20/40(OS); Butterfly-shaped hyperpigmentation ODS 1 1 LOVD
00415596 A- III:11 PubMed: Saksens 2016 - M - - Dutch - - - - retinal disease BCVA: 20/25(OD) - 20/20(OS); Typical butterfly-shaped hyperpigmentation surrounded by hypopigmentation OD and a juxtafoveal area of hyperpigmentation surrounded by a small ring of hypopigmentation OS 1 1 LOVD
00415597 A-III:12 PubMed: Saksens 2016 - F - - Dutch - - - - retinal disease BCVA: 20/25(OD) - 20/25(OS); Typical butterfly-shaped hyperpigmentation surrounded by hypopigmentation OS. OD small pigmentary changes without any pattern 1 1 LOVD
00415598 B- I:2 PubMed: Saksens 2016 - F - - Dutch - - - - retinal disease BCVA: 20/200(OD) - 20/63(OS); Mild pattern dystrophy ODS with OS one central lesion and OD several ‘dot and halo’ lesions in the macula 1 1 LOVD
00415599 B-II:1 PubMed: Saksens 2016 - M - - Dutch - - - - retinal disease BCVA: 20/20(OD) - 20/25(OS); ODS atrophy of RPE and photoreceptors in the macula, with a less peculiar butterfly-shaped pattern of pigmentary changes OD and focal hyperpigmentation centrally OS 1 1 LOVD
00415600 C-II:1 PubMed: Saksens 2016 - F - - Belgian - - - - retinal disease BCVA: 20/100(OD) - 20/100(OS); Starfish-like pattern dystrophy in ODS with pigmented subretinal deposits radiating outwards from denser deposits in foveal area; small, whitish dots on outline of 6 starfish legs; highlighting of macular luteal pigment, more pronounced in central foveal area 1 1 LOVD
00415601 C-I:2 PubMed: Saksens 2016 - F - - Belgian - - - - retinal disease BCVA: 20/25(OD) - 20/20(OS); Fairly mild pattern dystrophy ODS with in OD two and in OS three loosely defined linear tracts containing irregular patches of hyperpigmentation radiating from denser central foveal lesion 1 1 LOVD
00415602 C-III:1 PubMed: Saksens 2016 - F - - Belgian - - - - retinal disease BCVA: 20/25(OD) - 20/20(OS); Normal fundus ODS 1 1 LOVD
00415603 Family-3016-II:1 PubMed: Zhu 2010 - M - (China) - - - - - retinal disease OS, corneal opacity; OD, LIO 1 1 LOVD
00415604 Family-3016-I:1 PubMed: Zhu 2010 - M - (China) - - - - - retinal disease absence of peripheral vessels 1 1 LOVD
00415605 Family-34-II:1 PubMed: Zhu 2010 - F - (China) - - - - - retinal disease OS, ILO, white hyperplasiab; OD, Sickle RD 1 1 LOVD
00415606 Family-34-I:2 PubMed: Zhu 2010 - F - (China) - - - - - retinal disease absence of peripheral vessels, moderate leakage 1 1 LOVD
00415607 Family-3004-II:1 PubMed: Zhu 2010 - F - (China) - - - - - retinal disease OS/OD, Sickle RD 1 1 LOVD
00415608 Family-3004-I:2 PubMed: Zhu 2010 - F - (China) - - - - - retinal disease moderate leakage, abnormal anastomosis of peripheral vessels 1 1 LOVD
00421394 1 PubMed: Tanner 2021 family 1, proband F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/17; fundus appearance: macular pigmentary clumping, peripheral reticular changes; near infrared reflectance: hyper-reflective areas; fundus autofluorescence: linear areas of altered autofluorescence; optical coherence tomography: hyper-reflective subretinal deposit; electroretinogram, pattern electroretinogram normal; electrooculogram LP:DT ratio subnormal 150%) 1 1 LOVD
00421395 1 PubMed: Tanner 2021 family 1, daughter of 1.1 F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/40, 20/40; fundus appearance: central foveal deposit; near infrared reflectance: foveal intense hyper-reflective lesion; fundus autofluorescence: subtly irregular foveal autofluorescence; optical coherence tomography: hyper-reflective subretinal deposit; electroretinogram, pattern electroretinogram normal (skin electrodes, undilated) 1 1 LOVD
00421396 1 PubMed: Tanner 2021 family 1, daughter 2 of 1.1 F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/20; fundus appearance: subtle central altered foveal reflex; near infrared reflectance: foveal hyper- reflective lesion; fundus autofluorescence: no obvious abnormality; optical coherence tomography: subretinal deposits; electroretinogram, pattern electroretinogram normal. electrooculogram LP:DT ratio borderline (right 170%, left 165%) 1 1 LOVD
00421397 2 PubMed: Tanner 2021 family 2, proband M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/17, 20/17; fundus appearance: linear areas of hyper and hypo-pigmentation radiating from foveal centre; near infrared reflectance: linear areas of hyper-reflectance; fundus autofluorescence: linear areas of hyper autofluorescence; optical coherence tomography: disturbance at level of outer retina and rpe; electroretinogram, pattern electroretinogram normal. electrooculogram LP:DT ratio subnormal (right 135%, left 145%) 1 1 LOVD
00421398 2 PubMed: Tanner 2021 family 2, proband's sister F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/20; fundus appearance: subtle pigmentary changes; peripheral areas of atrophy; near infrared reflectance: not available; fundus autofluorescence: not available; optical coherence tomography: not available; electroretinogram, pattern electroretinogram normal. electrooculogram LP:DT ratio subnormal (145%) 1 1 LOVD
00421399 3 PubMed: Tanner 2021 family 3, proband F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/20; fundus appearance: pigmentary clumping; near infrared reflectance: hyper-reflectance in a wing-shaped pattern; fundus autofluorescence: patches of increased autofluorescence; optical coherence tomography: hyper-reflective subretinal deposit; electroretinogram, pattern electroretinogram normal 1 1 LOVD
00421400 3 PubMed: Tanner 2021 family 3, proband's mother F - - - - - - - retinal disease best corrected visual acuity right, left eye: not available (asymptomatic); fundus appearance: subtle pigmentary change and extramacular drusen; near infrared reflectance: not available; fundus autofluorescence: mild, variable hyper and hypo- autofluorescence; optical coherence tomography: not available; not available 1 1 LOVD
00421401 4 PubMed: Tanner 2021 family 4, proband F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/30, 20/17; fundus appearance: linear areas of pigmentary change; near infrared reflectance: linear areas of hyper-reflectance; fundus autofluorescence: linear areas of hyper autofluorescence; optical coherence tomography: subretinal hyper-reflective deposit; electroretinogram, pattern electroretinogram normal. electrooculogram LP:DT ratio subnormal (right 125%, left 135%) 1 1 LOVD
00421402 4 PubMed: Tanner 2021 family 4, proband' s maternal cousin M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/30, 20/20; fundus appearance: linear areas of pigmentary change; near infrared reflectance: linear areas of hyper-reflectance; fundus autofluorescence: linear areas of hyper autofluorescence; optical coherence tomography: subretinal hyper-reflective deposit; electroretinogram, pattern electroretinogram normal 1 1 LOVD
00421403 5 PubMed: Tanner 2021 family 9, proband F - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/20, 20/20; fundus appearance: linear areas of pigmentary change; near infrared reflectance: linear areas of hyper-reflectance; fundus autofluorescence: subtle patch of hyper autofluorescence; optical coherence tomography: subretinal hyper-reflective deposit; electroretinogram, pattern electroretinogram normal 1 1 LOVD
00421404 6 PubMed: Tanner 2021 family 10 M - - - - - - - retinal disease best corrected visual acuity right, left eye: 20/200, 20/30; fundus appearance: central atrophy in right eye and pigment mottling in left eye (later becoming atrophy); near infrared reflectance: foveal hyper- reflectance and surrounding linear areas of hyper- reflectance; fundus autofluorescence: foveal hypo autofluorescence in area of atrophy with surrounding linear or reticular areas of hyper autofluorescence; optical coherence tomography: outer retinal atrophy; electroretinogram within normal limits (skin electrodes), electrooculogram normal (right 260%, left 200%) 1 1 LOVD
00447518 BVMD-35 PubMed: Weisschuh 2024 patient F - Germany - - - - - ? - 1 1 Johan den Dunnen
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