All individuals with variants in gene OPHN1

35 entries on 1 page. Showing entries 1 - 35.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 7 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 8 1 Yu Sun
00016958 19377126-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 12 Lucy Raymond
00016959 19377127-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016960 19377128-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016961 19377129-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00017018 Fam11 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - ? (unknown) ? - 0 - - MRX;IDX brothers mild-moderate intellectual disability, cryptorchidism, strabismus, slightly ataxic gait, borderline obesity, normal height, normal OFC, MRI brain cerebellar hypoplasia, slight atrophy frontal cortex; younger brother multiple cysts left kidney 1 2 Andreas Tzschach
00052110 - - - - - - - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - 1 1 Talia Schwartz
00052112 - - - - - - - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) psychomotor retardation, epilepsy, craniofacial dysmorphism 1 1 Talia Schwartz
00052113 - - - - - - - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - 1 1 Talia Schwartz
00052130 - PubMed: Billuart 1998, Journal: Billuart 1998 5-generation family, 4 affected males, 7 unaffected heterozygous carrier females M no France - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) - 1 4 Johan den Dunnen
00052131 09582072-Pat PubMed: Billuart 1998, Journal: Billuart 1998 female patient F - France - - 0 - - MRX;IDX mild mental retardation 1 1 Johan den Dunnen
00052132 - PubMed: Philip 2003, Journal: Philip 2003 3-generation family, 4 affected males, 2 mildly affected heterozygous carrier females M no France - - 0 - - MRD20 see paper (other patients); born at term, uneventful pregnancy, birth weight 3450g (50th), birth length 51cm (50th), OFC 36.5cm (90th); 9m-febrile seizures, generalised hypotonia, developmental delay; 11m-sit; 18y-weight 105kg, height 1.82m, OFC 60cm (>98th), facial appearance slightly dysmorphic, deeply set eyes, prominent chin; neurological examination normal, significantly mentally retarded, no autonomy (IQ 46), no reading; MRI-large ventricles without hydrocephalus, blunted appearance angle lateral ventricles, large cisterna magna without abnormality tentorium; female carriers mildly affected 1 6 Johan den Dunnen
00052133 - PubMed: Philip 2003, Journal: Philip 2003 2-generation family, 1 affected M no France - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) born at term, pregnancy and delivery uneventful; 2y-psychomotor delay; walk-18m, language severely delayed; 11y-brain CT scan retrocerebellar cyst with tentorial dysplasia, small vermis, dilated ventricles requiring ventriculoperitoneal shunting; 13y-dysmorphic features, deeply set eyes, prominent roof nose, prominent chin, OFC 57.5cm (>97th), weight 63kg (>97th), height 158.5cm (50th), poor reading, writing not acquired; according to parents behavioural problems, instability, intolerance to frustration 1 1 Johan den Dunnen
00132973 - - - M - (Germany) - - 0 - - ? Intellectual disability, severe (HP:0010864); Seizures (HP:0001250); Microcephaly (HP:0000252) 1 1 IMGAG
00144613 - - - M - (Germany) - - 0 - - ? Global developmental delay (HP:0001263); Seizures (HP:0001250); Postnatal microcephaly (HP:0005484) 1 1 IMGAG
00180163 29286531-Pat15 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? Epilepsy (HP:0001250), moderate intellectual disability (HP:0002342), nystagmus (HP:0000639). Head MRI: cerebellar hypoplasia (HP:0001321), corpus callosum hypoplasia (HP:0002079), oligohydramnios (HP:0001562). 1 1 Johan den Dunnen
00183113 25644381-FamT10 PubMed: Hu 2016 family, 2 affected, 6 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183114 25644381-FamMRX26/D43 PubMed: Hu 2016 family, 1 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00183159 25644381-FamT144 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183160 25644381-FamAU49 PubMed: Hu 2016 family, 1 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00183168 25644381-FamAU14 PubMed: Hu 2016 family, 4 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 4 Johan den Dunnen
00183170 25644381-FamAU90 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00295083 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 49 Mohammed Faruq
00305316 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 33 Mohammed Faruq
00307050 FamB PubMed: Nuovo 2021 3-generation family, 2 affected males, 3 unaffected heterozygous carrier females M yes - - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) Uneventful pregnancy and delivery. Birth weight: 3650 g, birth length: 52 cm, birth head circumference: 34 cm. Neurodevelopmental delay (head control at 6 months, sitting at 10 months, walking unaided at 17 months, first sentences at 4 years) . At school age, poor educational achievement and hyperactive behavior, requiring treatment with methylphenidate. Moderate intellectual disability (full scale IQ 49 on WISC scale). At last follow-up (18.5 years of age) strabismus and mild motor dyspraxia, with no signs of ataxia or pyramidal deficit. Facial dysmorphisms (including long face with prominent forehead, hypothelorism, deep-set eyes, large ears, long and tubular nose, short philtrum, thin upper lip and prominent chin). Symmetrical enlargement of lateral ventricles, cerebellar hypoplasia (mainly affecting the vermis) and inferior vermian dysplasia on brain MRI, with no signs of neuroradiological progression. 1 2 Sara Nuovo
00307068 FamB PubMed: Nuovo 2021 2-generation family, 1 affected, unaffected carrier mother M - Italy - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) Uneventful pregnancy and delivery. Developmental delay with prevalent impairment of language skills. Macrocephaly (>97°), slight dysmorphic features (including prominent auricle, thin upper lip, fleshy lower lip, and thinning of the inner third of the eyebrows). Autistic traits, hyperactivity, severe-moderate intellectual disability (IQ 41 with a severe impairment of adaptive skills) and oral dyspraxia. Generalized epilepsy (EEG detecting active multifocal abnormalities), treated with valproic acid. Cerebellar vermis hypoplasia and thin corpus callosum on brain MRI. 1 1 Sara Nuovo
00307757 UK10K_FINDWGA5411200 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307758 UK10K_FINDWGA5411352 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00361599 10DG0165 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - 0 - - ID syndromic; global developmental delay, hydrocephalus, syndactyly 1 1 Johan den Dunnen
00374799 R-0518 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00380821 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60) ID; cerebellar hypoplasia (Neurological) 1 1 LOVD
00392294 CMS2401 - - M no (United States) white 0 0 - - epilepsy, X-linked, with variable learning disabilities and behavior disorders Pathogenic variants in the Oligophrenin 1 gene (OPHN1) cause an X-linked intellectual disability syndrome with a phenotype typically consisting of cerebellar hypoplasia, ventriculomegaly, seizures, facial dysmorphism, speech delay and sometimes behavioral difficulties. We describe a male patient with global developmental delay, and cerebellar hypoplasia and other neuroanatomical findings suggestive of a Dandy-Walker malformation. The clinical pontocerebellar hypoplasia sequencing panel revealed a partial duplication from exon 7 to exon 15 in OPHN1, which was maternally inherited. PCR-Sanger sequencing of cDNA showed a truncating frameshift in the OPHN1 transcript. Further, transcript level analysis of OPHN1 showed a 75% reduction in the total expression in the patient in comparison to controls. Presumably this leads to a similar reduction in the level of OPHN1 protein resulting in the observed phenotype. This is the first report of a partial duplication of exons 7-15 in OPHN1 in a patient with strabismus, speech delay, dysmorphic facial features, epilepsy, an autism-like phenotype, and developmental delay. 1 1 Dr. Laxmi Kirola
00392513 - - - M no (United States) white 0 0 - - ? - 1 1 Dr. Laxmi Kirola
00410560 Pat22 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - 0 - - ? see paper; ..., onset neonatal, intellectual disability, epilepsy, autism, aggression, auto mutilation, no family history 1 1 Johan den Dunnen
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