A novel mutation in guanidinoacetate methyltransferase (GAMT) deficiency in two patients associated with epilepsy, developmental delay, hyperactivity, autistic behavior

2017 ◽  
Vol 21 ◽  
pp. e125
Author(s):  
Halil Ibrahim Aydin ◽  
F. Mujgan Sonmez
Keyword(s):  
Developmental Delay ◽  
Novel Mutation ◽  
Autistic Behavior ◽  
Gamt Deficiency

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family

2016 ◽  
Vol 371 ◽  
pp. 121-125 ◽  
Author(s):  
Muhammad Imran Naseer ◽  
Mahmood Rasool ◽  
Mohammed M. Jan ◽  
Adeel G. Chaudhary ◽  
Peter Natesan Pushparaj ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Novel Mutation ◽  
Saudi Family

scholarly journals Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Layal Abi Farraj ◽  
Wassim Daoud Khatoun ◽  
Naji Abou Chebel ◽  
Victor Wakim ◽  
Katia Dawali ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Mental Retardation ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Novel Mutation ◽  
Blood Levels ◽  
Facial Dysmorphism ◽  
Loss Of Function ◽  
Clinical Genetic ◽  
Severe Intellectual Disability

Abstract Background Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, cardiac abnormalities, and developmental delay. Genes involved in the glycosylphosphatidylinositol pathway and known to be mutated in HPMRS have never been characterized in the Lebanese population. Case presentation Herein, we describe a pair of monozygotic twins presenting with severe intellectual disability, distinct facial dysmorphism, developmental delay, and increased alkaline phosphatase level. Two individuals underwent whole exome sequencing followed by Sanger sequencing to confirm the co-segregation of the mutation in the consanguineous family. A biallelic loss of function mutation in PGAP3 was detected. Both patients were homozygous for the c.203delC (p.C68LfsX88) mutation and the parents were carriers confirming the founder effect of the mutation. High ALP serum levels confirmed the molecular diagnosis. Conclusion Our findings have illustrated the genomic profile of PGAP3-related HPMRS which is essential for targeted molecular and genetic testing. Moreover, we found previously unreported clinical findings such as hypodontia and skin hyperpigmentation. These features, together with the novel mutation expand the phenotypic and genotypic spectrum of this rare recessive disorder.

scholarly journals Both Maternal and Pup Genotype Influence Ultrasonic Vocalizations and Early Developmental Milestones in Tsc2+/− Mice

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Emily A. Greene-Colozzi ◽  
Abbey R. Sadowski ◽  
Elyza Chadwick ◽  
Peter T. Tsai ◽  
Mustafa Sahin
Keyword(s):  
Developmental Delay ◽  
Autism Spectrum ◽  
Postnatal Period ◽  
Ultrasonic Vocalizations ◽  
Developmental Milestones ◽  
Autosomal Dominant Disorder ◽  
Autistic Behavior ◽  
Increased Risk ◽  
The Relationship ◽  
Early Developmental

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumor growth and neuropsychological symptoms such as autistic behavior, developmental delay, and epilepsy. While research has shed light on the biochemical and genetic etiology of TSC, the pathogenesis of the neurologic and behavioral manifestations remains poorly understood. TSC patients have a greatly increased risk of developmental delay and autism spectrum disorder, rendering the relationship between the two sets of symptoms an extremely pertinent issue for clinicians. We have expanded on previous observations of aberrant vocalizations in Tsc2+/− mice by testing vocalization output and developmental milestones systematically during the early postnatal period. In this study, we have demonstrated that Tsc2 haploinsufficiency in either dams or their pups results in a pattern of developmental delay in sensorimotor milestones and ultrasonic vocalizations.

Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature

2017 ◽  
Vol 48 (06) ◽  
pp. 456-462 ◽  
Author(s):  
Oded Scheuerman ◽  
Rachel Straussberg ◽  
Nesia Kropach ◽  
Vered Shkalim-Zemer ◽  
Naama Orenstein
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Developmental Delay ◽  
Novel Mutation ◽  
Medical Center ◽  
Relevant Literature ◽  
Failure To Thrive ◽  
Genetic Studies ◽  
Genetic Sequencing ◽  
Mitochondrial Dna Depletion

Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness. Results Genetic sequencing of the RRM2B gene revealed the same novel mutation in both the siblings. Both children died due to respiratory failure at ages 3 and 2.5 months, respectively. Conclusion The combination of neonatal hypotonia, developmental delay, and lactic acidosis should raise a clinician's suspicion of a mitochondrial depletion disorder and prompt further genetic studies.

A Novel Mutation in HERC2 Gene in a Patient with Global Developmental Delay, Intellectual Disability, and Refractory Seizures

2020 ◽  
Author(s):  
Hussein Algahtani ◽  
Bader Shirah ◽  
Mustafa Daghistani ◽  
Mohammad H. Al-Qahtani ◽  
Angham Abdulrahman Abdulkareem ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Novel Mutation ◽  
Global Developmental Delay ◽  
Refractory Seizures ◽  
Herc2 Gene

Interstitial Duplication of 2q32.1-q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

2013 ◽  
Vol 161 (5) ◽  
pp. 1078-1084 ◽  
Author(s):  
Daisuke Usui ◽  
Shino Shimada ◽  
Keiko Shimojima ◽  
Midori Sugawara ◽  
Hajime Kawasaki ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Autistic Behavior ◽  
Interstitial Duplication

scholarly journals Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Hamza Hassan Khan ◽  
Lauren Parr ◽  
Allison Jay ◽  
Saleem Raza ◽  
Hernando Lyons ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Novel Mutation ◽  
Glycogen Storage ◽  
Deletion Syndrome ◽  
Chromosomal Microarray ◽  
Vastus Lateralis Muscle ◽  
Phosphorylase Kinase ◽  
Phka2 Gene

We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen size. Liver and muscle biopsies were obtained: the liver biopsy revealed distended hepatocytes with excessive glycogen accumulation and fine septate fibrosis. Biopsy of the right vastus lateralis muscle showed focal swollen glycogen containing mitochondria. For the developmental delay, a chromosomal microrarray was ordered. The chromosomal microarray revealed the patient to have 1q21 duplication syndrome and 16p11.2 deletion syndrome. Given the liver and muscle biopsy findings, a glycogen storage disease panel was sent which identified the patient to be hemizygous for a variant of uncertain significance denoted as p.Gly 131Val, c.392G > T in the PHKA2 gene. PKHA2 gene encodes the alpha subunit of hepatic phosphorylase kinase. This change in the PHKA2 gene was in a highly conserved region and had been reported in another patient with decreased enzymatic activity of the phosphorylase kinase and who had symptoms of GSD IX. Based on this, the patient was started on treatment for GSD IX, and his family met with a dietician.

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