Neda Kamal scite author profile

Annals of Human Genetics

Zoghi

Namdar

et al. 2021

Background: Gabriele‐de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in YY1. In this study, we report a 10‐year‐old boy with a de novo novel pathogenic variant in YY1, the first Iranian patient with Gabriele‐de Vries Syndrome. Methods: The novel de novo pathogenic variant detected in this study (NM_003403:c.690delA, p.Glu231Ilefs*25) was identified by whole‐exome sequencing and confirmed by Sanger sequencing. Results: The proband presented with delayed motor and speech development, ataxia, abnormal gait, autistic behavior, brain atrophy, and severe learning disability. Finally, we provide a case‐based review of the clinical features associated with Gabriele‐de Vries Syndrome. Thus far, merely 13 Gabriele‐de Vries Syndrome patients have been reported in the literature. Conclusion: The investigations for a suspected case of Gabriele‐de Vries Syndrome must involve molecular diagnosis of the disease and its underlying genetic defect because the clinical investigations are generally variable and nonspecific.

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MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family

Zeraatpisheh

Sichani

et al. 2022

J Genet

ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review

Mohammadi

et al. 2022

A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review

Manoochehri

et al. 2022

Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review

Ehsani

Abbasi

et al. 2022

NRXN3 mutations cause developmental delay, movement disorder, and behavioral problems: CRISPR edited cells based WES results

Dara

et al. 2023

Gene

A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness

Mohammadi

Annals of Human Genetics

Baneshi

et al. 2023

IntroductionHereditary sensory neuropathy (HSN) describes as a heterogeneous group of peripheral neuropathies. HSN type 1 (HSN1) is one subtype characterized by distal sensory impairment that occurs in the form of numbness, tingling, or pain. To date, only two variants in the atlastin GTPase 3 (ATL3) gene have been identified that result in hereditary sensory neuropathy type 1F (HSN1F) with autosomal dominantinheritance. MethodsWe sudied and examined who present with sensory disturbances and muscle weakness in their lower limb. Patients underwent Whole Exome Sequencing and Sanger sequencing was performed in families for validation of detected variant. ResultsHere, we identified two Iranian families carrying the novel heterozygous stop variant NM_015459.5: c.16C>T, p.Arg6Ter in ATL3 that led to disturbed pain and touch sensitivity. This variant in the ATL3 gene was detected in both families (NM_015459.5: c.16C>T, p.Arg6Ter) by whole‐exome sequencing and confirmed by Sanger sequencing. ConclusionIn this study, the subjects manifested weakness of distal limb muscles and numbness of the lower extremities. In addition, some unusual features, including hearing problems and inability to sit and walk presented in one of the patients. Eventually, we provide a case‐based review of the clinical features associated with HSN1F. Hitherto, only 11 patients with HSN1F have been reported. We compared our findings to previously reported cases, suggesting that the clinical features are generally variable in the HSN1F patients.

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The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review

Shafieipour

et al. 2023