Molecular Syndromology 2023, Vol. 14, No. 6
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review
Novel Insights from Clinical Practice
Pathogenic variants in the SYT1 gene cause a rare, complex neurodevelopmental disorder.
Epilepsy is present in a minority of cases.
Schneckenbecken dysplasia (SBD) is a rare skeletal dysplasia with only a few reported cases.
SBD has severe skeletal findings and results in death in the prenatal and early postnatal periods.
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in TTC37 and SKIVL2 genes. Clinical features of THES are intractable diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities.
Lipoid proteinosis (LP) is characterized by persistent voice hoarseness and skin changes, such as fragility, infiltrated papules and nodules over the skin, and mucosae. LP is caused by biallelic pathogenic variants in ECM1 gene.
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature
Fanconi anemia (FA) is a rare, multisystem disorder which is characterized by bone marrow failure, congenital malformations, predisposition to malignancy, and short stature.
FA is a genetically heterogenous disease with more than twenty related phenotypes and genes identified so far.
The RFWD3 gene was recently related to FA complementation group W, and only 1 patient is reported in the literature so far.
Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome
• Mutations in SOX10 gene result in Waardenburg syndrome.
• Patients with DDX3X syndrome show variable clinical features with different degrees of intellectual disability and/or developmental delay, hypotonia, epilepsy, movement disorders, autism spectrum disorder, and aggressiveness.
• Brain imaging of these cases showed corpus callosum hypoplasia, ventricular enlargement, and polymicrogyria. Moreover, few cases showed small anterior commissure, small pons, and small inferior vermis.