Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

2018 ◽  
Vol 40 (2) ◽  
pp. 134-139 ◽  
Author(s):  
Yuji Nakamura ◽  
Yasuko Togawa ◽  
Yusuke Okuno ◽  
Hideki Muramatsu ◽  
Kazuhiko Nakabayashi ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Clinical Entity ◽  
Biallelic Mutations

scholarly journals P.133 Expanding the phenotype of TRNT1 mutations to include Leigh syndrome

2018 ◽  
Vol 45 (s2) ◽  
pp. S51-S51
Author(s):  
C Gorodetsky ◽  
CF Morel ◽  
I Tein
Keyword(s):  
Developmental Delay ◽  
Early Adulthood ◽  
Leigh Syndrome ◽  
Global Developmental Delay ◽  
High Dose ◽  
Sideroblastic Anemia ◽  
Whole Exome ◽  
Mitochondrial Transfer ◽  
Neurological Phenotype ◽  
Biallelic Mutations

Background: Children with biallelic mutations in TRNT1 have multi-organ involvement with congenital sideroblastic anemia, -B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) as well as seizures, ataxia and sensorineural hearing loss. The TRNT1 gene encodes the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs accounting for phenotypic pleitropy. Neurodegenerative Leigh syndrome has not been previously reported. Methods:Case summary: A Portuguese boy presented with global developmental delay, 2 episodes of infantile Leigh encephalopathy at 8 mo and 4 yr responsive to high-dose steroids, slow neurodegeneration of cognitive, language and motor functions with optic atrophy, pigmentary retinopathy, spasticity, dystonia, and focal dyscognitive seizures, pancytopenia, transfusion dependent sideroblastic anemia, recurrent febrile infections (pulmonary, gastrointestinal), hypernatremia, with tracheostomy dependence at age 5 yr, malabsorption and TPN dependence at 9 yr, and survival to early adulthood. Neuroimaging showed symmetric hemorrhagic lesions in the thalamus, brain stem (periaqueductal grey) and cerebellum consistent with Leigh syndrome but no lactate peak on MRS. Results: Whole exome sequencing identified a homozygous missense pathogenic variant in TRNT1, c.668T>C (p.I223T) in the affected individual. Conclusions: This report expands the neurological phenotype of TRNT1 mutations and highlights the importance of considering this gene in the evaluation of Leigh syndrome.

scholarly journals Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Omid Alavi ◽  
Hossein Jafari Khamirani ◽  
Sina Zoghi ◽  
Afrooz Feili ◽  
Seyed Alireza Dastgheib ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Corpus Callosum ◽  
Exome Sequencing ◽  
Developmental Delay ◽  
Whole Exome Sequencing ◽  
Drug Resistant ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Warburg Micro Syndrome ◽  
Craniofacial Features

AbstractIn this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental delay, abnormal craniofacial features, drug-resistant constipation, and corpus callosum hypoplasia. The proband of the second family is a 13-year-old boy who suffers from developmental delay, quadriplegia, intellectual disability, abnormal craniofacial features, and corpus callosum hypoplasia.

scholarly journals Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

2020 ◽  
Vol 107 (6) ◽  
pp. 1044-1061
Author(s):  
Pauline E. Schneeberger ◽  
Leonie von Elsner ◽  
Emma L. Barker ◽  
Peter Meinecke ◽  
Iris Marquardt ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Pathogenic Variants ◽  
Renal Abnormalities

scholarly journals Corpus Callosum Measurements Correlate With Developmental Delay in Smith-Lemli-Opitz Syndrome

2013 ◽  
Vol 49 (2) ◽  
pp. 107-112 ◽  
Author(s):  
Ryan W.Y. Lee ◽  
Shoko Yoshida ◽  
Eun Sol Jung ◽  
Susumu Mori ◽  
Eva H. Baker ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Opitz Syndrome

scholarly journals Disconnections in Infantile-Onset Saccade Initiation Delay: A Hypothesis

2010 ◽  
Vol 37 (6) ◽  
pp. 779-782 ◽  
Author(s):  
Michael S. Salman ◽  
Kristin M. Ikeda
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Brain Regions ◽  
Ocular Motor ◽  
Motor Apraxia ◽  
Two Sides ◽  
The Brain ◽  
Congenital Ocular Motor Apraxia

AbstractInfantile-onset saccade initiation delay (ISID), commonly known as congenital ocular motor apraxia, is characterized by difficulty in triggering horizontal volitional saccades. It typically presents with head thrusts in infancy and is often associated with developmental delay. Patients with ISID are reported to have abnormalities in various brain regions including the corpus callosum, brainstem, and cerebellum. We propose that ISID is caused by the disruption or disconnection of axons linking analogous brain regions involved in processing saccades across the two sides of the brain or bilateral damage to these regions.

scholarly journals Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

2017 ◽  
Vol 25 (8) ◽  
pp. 946-951 ◽  
Author(s):  
Karin Weiss ◽  
Kristen Wigby ◽  
Madeleine Fannemel ◽  
Lindsay B Henderson ◽  
Natalie Beck ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Craniofacial Anomalies
Sign in / Sign up

Export Citation Format

Share Document