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11 Possible Causes for All Reported Mutations Have Occurred De Novo, Optic Nerve Hypoplasia, Pediatric Disorder

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  • Optic Atrophy

    NOTE: Optic nerve hypoplasia should not be confused with optic atrophy.[tsbvi.edu] George's Healthcare NHS Trust, London, UK. 17 VMP Genetics, LLC, Atlanta, Georgia, USA. 18 University of Georgia, Athens, Georgia, USA. 19 Center for Rare Childhood Disorders[ncbi.nlm.nih.gov] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov]

  • Cerebro-Costo-Mandibular Syndrome

    Hypertelorism, strabismus, nystagmus, optic nerve hypoplasia and astigmatism can lead to decreased vision and acuity. Recurrent otitis media has also been reported.[findzebra.com] A new familial developmental disorder. Arch Dis Chil 45: 421 Google Scholar 4.[link.springer.com] TIS is a disorder where severe problems in how the chest, spine, and ribs are formed prevent normal breathing and lung development.[rarediseases.org]

  • Anophthalmia - Microphthalmia Syndrome

    AD AS RD Optic nerve hypoplasia/aplasia 3 Pituitary anomalies/dysfunction, brain abnormalities, DD, autistic features 4 600037 610125 RAX Microphthalmia, isolated 3 3% AR[ncbi.nlm.nih.gov] Strongly associated with chromosome abnormalities and single-gene disorders. Karyotype is indicated.[mhmedical.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Hypopituitarism

    BACKGROUND: Optic nerve hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as[ncbi.nlm.nih.gov] Bode HH: Disorders of posterior pituitary; in Kaplan SA (ed): Clinical Pediatric Endocrinology. Philadelphia, Saunders, 1990, pp 63–86.[oadoi.org] All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    nerve hypoplasia 0000609 Postnatal growth retardation Growth delay as children 0008897 Rib fusion Fused ribs 0000902 Sensorineural hearing impairment 0000407 Short stature[rarediseases.info.nih.gov] Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine[imedpub.com] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org]

  • Helsmoortel-van der Aa Syndrome

    Optic Nerve Optic nerve hypoplasia occurs in approximately 10% of cases; optic nerve colobomas are also seen occasionally. [3] Retina Foveal hypoplasia is usually present.[eyewiki.aao.org] Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com]

  • Lissencephaly

    PFV/PHPV, retinal dysplasia/malformation, retinal non-attachment, optic nerve coloboma, and optic nerve hypoplasia. [4] [8] [9] Walker-Warburg Syndrome (WWS): The most common[eyewiki.aao.org] These can be classified into pediatric neurological diseases, hereditary diseases affecting sensory organs, mental disorders and late-onset neurodegenerative disorders.[blogs.biomedcentral.com] So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov]

  • Congenital Fibrosis of Extraocular Muscles Type 5

    He had mild optic nerve hypoplasia in the right eye and situs inversus of the retinal vessels in the left optic disc.[ijo.in] The impact of pediatric vision disorders in adulthood. 2011; 127(2):334-339.[aao.org] Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report. Strabismus 2001;9:33–35. 14.[ekjo.org]

  • Congenital Fibrosis of Extraocular Muscles Type 3A

    Unilateral congenital oculomotor nerve palsy, optic nerve hypoplasia and pituitary malformation: a preliminary report. Strabismus 2001;9:33–35. 14.[ekjo.org] Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] A mutation screen involving 29 unrelated families revealed that 13 had eight TUBB3 pathogenic variants and all occurred de novo (Tischfield et al. 2010).[preventiongenetics.com]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    He was found to have an anterior encephalocele through the floor of the anterior cranial fossa, bilaterial optic nerve hypoplasia and bilateral fundus coloboma.[reviewofophthalmology.com] Curr Opin Pediatr 14(6):678-83, 2002. 57. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol 14(3):136-9, 2007. 58. Greenberg F.[siicsalud.com] Almost all reported cases have occurred de novo.[bredagenetics.com]

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