Create issue ticket

9 Possible Causes for All Reported Mutations Have Occurred De Novo

Show results in: Español

  • Hypopituitarism

    All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org] We have subsequently reported six patients harbouring de novo heterozygous mutations in SOX2, resulting in loss of function of the mutant protein, four of whom were previously[web.archive.org]

  • Optic Atrophy

    Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] Of interest, de novo SCN2A mutations have also been reported in five patients without seizures but with ID (n 3) and/or autism (n 3).[ncbi.nlm.nih.gov]

  • Dystrophic Epidermolysis Bullosa

    All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se] Here we report another de novo mutation of c.5282G A (p.Gly1761Asp) in exon 60.[medicaljournals.se] Other subtypes of DDEB, pretibial, nails only and bullous dermolysis of newborns occur less frequently 2.[medicaljournals.se]

  • Lissencephaly

    So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov] CONCLUSIONS: Mutations in TUBA1A have been described in patients with lissencephaly and pachygyria. We report a mutation in TUBA1A as a cause of polymicrogyria.[ncbi.nlm.nih.gov] […] p.Tyr210Cys) occurring de novo in a boy with lissencephaly, and c.13A C (p.Ile5Leu) affecting 2 sisters with polymicrogyria whose mother presented somatic mosaicism for the mutation[ncbi.nlm.nih.gov]

  • Autosomal Dominant Mental Retardation 28

    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] Craniosynostosis MUSCLE, SOFT TISSUE: Hypotonia, neonatal NEUROLOGIC: [Central nervous system]; Delayed psychomotor development; Poor or absent speech; Seizures (rare) MISCELLANEOUS: All[findzebra.com]

  • Cerebro-Costo-Mandibular Syndrome

    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] Craniosynostosis MUSCLE, SOFT TISSUE: Hypotonia, neonatal NEUROLOGIC: [Central nervous system]; Delayed psychomotor development; Poor or absent speech; Seizures (rare) MISCELLANEOUS: All[findzebra.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com] […] development; Speech delay; Seizure-like activity (in some patients); Cerebellar atrophy (in some patients); Cerebral atrophy (in some patients) MISCELLANEOUS: Onset at birth; All[findzebra.com]

  • Autosomal Dominant Non-Syndromic Mental Retardation

    Almost all reported cases have occurred de novo.[bredagenetics.com] Most mutations are protein truncating ( nonsense, frame shifting, splice mutations ), although a minority of missense mutations has also been reported.[bredagenetics.com] Molecular genetics Loss-of-function mutations causing haploinsufficiency of the SYNGAP1 gene (and likely damaging the development of the forebrain glutamatergic neurons) are[bredagenetics.com]

  • Congenital Fibrosis of Extraocular Muscles Type 3A

    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] Severe phenotype has been reported in patients with de novo mutations in TUBB3 (Poirier et al. 2010).[preventiongenetics.com] So far only missense variants have shown to be causative for TUBB3 -associated disorders (Human Gene Mutation Database).[preventiongenetics.com]

Further symptoms