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  1. Article ; Online: First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

    Lindsay B. Henderson / Virginia L. Corson / Daniel O. Saul / Cynthia Anderson / Sarah Millard / Denise A. S. Batista / Karin J. Blakemore / Cheryl DeScipio

    Case Reports in Genetics, Vol

    2013  Volume 2013

    Keywords Genetics ; QH426-470 ; Biology (General) ; QH301-705.5 ; Science ; Q ; DOAJ:Genetics ; DOAJ:Biology ; DOAJ:Biology and Life Sciences
    Language English
    Publishing date 2013-01-01T00:00:00Z
    Publisher Hindawi Publishing Corporation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: EIF3F-related neurodevelopmental disorder

    Ulrike Hüffmeier / Cornelia Kraus / Miriam S. Reuter / Steffen Uebe / Mary-Alice Abbott / Syed A. Ahmed / Kristyn L. Rawson / Eileen Barr / Hong Li / Ange-Line Bruel / Laurence Faivre / Frédéric Tran Mau-Them / Christina Botti / Susan Brooks / Kaitlyn Burns / D. Isum Ward / Marina Dutra-Clarke / Julian A. Martinez-Agosto / Hane Lee /
    Stanley F. Nelson / UCLA California Center for Rare Disease / Pia Zacher / Rami Abou Jamra / Chiara Klöckner / Julie McGaughran / Jürgen Kohlhase / Sarah Schuhmann / Ellen Moran / John Pappas / Annick Raas-Rothschild / Maria J. Guillen Sacoto / Lindsay B. Henderson / Timothy Blake Palculict / Sureni V. Mullegama / Houda Zghal Elloumi / Adi Reich / Samantha A. Schrier Vergano / Erica Wahl / André Reis / Christiane Zweier

    Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

    refining the phenotypic and expanding the molecular spectrum

    2021  Volume 9

    Abstract: Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable ... ...

    Abstract Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients. Results 21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Minor dysmorphic features were observed, although neither the individuals’ facial nor general appearance were obviously distinctive. Symptoms in the compound heterozygous individual with an additional truncating variant were at the severe end of the spectrum in regard to motor milestones, speech delay, organic problems and pre- and postnatal growth of body and head, suggesting some genotype–phenotype correlation. Conclusions Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder.
    Keywords EIF3F gene ; Neurodevelopmental disorder ; Short stature ; Deafness ; Behavioral difficulties ; Altered muscular tone ; Medicine ; R
    Subject code 150
    Language English
    Publishing date 2021-03-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

    Hugh J. McMillan / Aida Telegrafi / Amanda Singleton / Megan T. Cho / Daniel Lelli / Francis C. Lynn / Julie Griffin / Alexander Asamoah / Tuula Rinne / Corrie E. Erasmus / David A. Koolen / Charlotte A. Haaxma / Boris Keren / Diane Doummar / Cyril Mignot / Islay Thompson / Lea Velsher / Mohammadreza Dehghani / Mohammad Yahya Vahidi Mehrjardi /
    Reza Maroofian / Michel Tchan / Cas Simons / John Christodoulou / Elena Martín-Hernández / Maria J. Guillen Sacoto / Lindsay B. Henderson / Heather McLaughlin / Laurie L. Molday / Robert S. Molday / Grace Yoon

    Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-

    2018  Volume 10

    Abstract: Abstract Background ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. Methods ... ...

    Abstract Abstract Background ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. Methods An observational study was conducted at multiple diagnostic centres. Clinical data is presented from 9 unreported and 2 previously reported patients with ATP8A2 mutations. We compare their features with 3 additional patients that have been previously reported in the medical literature. Results Eleven patients with biallelic ATP8A2 mutations were identified, with a mean age of 9.4 years (range 2.5–28 years). All patients with ATP8A2 mutations (100%) demonstrated developmental delay, severe hypotonia and movement disorders, specifically chorea or choreoathetosis (100%), dystonia (27%) and facial dyskinesia (18%). Optic atrophy was observed in 78% of patients for whom funduscopic examination was performed. Symptom onset in all (100%) was noted before 6 months of age, with 70% having symptoms noted at birth. Feeding difficulties were common (91%) although most patients were able to tolerate pureed or thickened feeds, and 3 patients required gastrostomy tube insertion. MRI of the brain was normal in 50% of the patients. A smaller proportion was noted to have mild cortical atrophy (30%), delayed myelination (20%) and/or hypoplastic optic nerves (20%). Functional studies were performed on differentiated induced pluripotent cells from one child, which confirmed a decrease in ATP8A2 expression compared to control cells. Conclusions ATP8A2 gene mutations have emerged as the cause of a novel neurological phenotype characterized by global developmental delays, severe hypotonia and hyperkinetic movement disorders, the latter being an important distinguishing feature. Optic atrophy is common and may only become apparent in the first few years of life, necessitating repeat ophthalmologic evaluation in older children. Early recognition of the cardinal features of this condition ...
    Keywords ATP8A2 ; Phospholipid transfer protein ; Optic atrophy ; Chorea ; Choreoathetosis ; Dystonia ; Medicine ; R
    Subject code 616
    Language English
    Publishing date 2018-05-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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    Inter-library loan at ZB MED

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