Introduction to Wolf Hirschhorn Syndrome

What is/are Wolf Hirschhorn Syndrome?

Wolf Hirschhorn Syndrome - The type of epilepsy in this girl does not match Wolf–Hirschhorn syndrome (which is determined by her karyotype), but is similar to epilepsy in patients with aberrations of the long arm of chromosome 18. ^[1] Nuclear receptor SET domain protein (NSD2) plays a fundamental role in the pathogenesis of Wolf–Hirschhorn Syndrome (WHS) and is overexpressed in multiple human myelomas, but its protein–protein interaction (PPI) patterns, particularly at the isoform/exon levels, are poorly understood. ^[2] Wolf–Hirschhorn syndrome (WHS) is a contiguous gene disorder consisting of prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. ^[3] The SET domain–containing histone methyltransferase Wolf–Hirschhorn syndrome candidate 1 (WHSC1) regulates cancer progression, while its role in sepsis-induced ALI remains unclear. ^[4] Wolf–Hirschhorn syndrome (WHS) is a contiguous gene disorder, clinically delineated by prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. ^[5] Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly understood. ^[6] Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. ^[7] Leucine zipper/EF-hand-containing transmembrane protein 1 (LETM1) has been identified as the gene responsible for Wolf-Hirschhorn syndrome (WHS), which is characterized by intellectual disability, epilepsy, growth delay and craniofacial dysgenesis. ^[8] Objective To study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes. ^[9] BackgroundWolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. ^[10] Wolf-Hirschhorn syndrome (WHS) is a rare genetic syndrome caused by deletion of a portion of the short arm of chromosome 4 (del 4p16. ^[11] The first fetus had Wolf-Hirschhorn syndrome presenting as isolated hypoplastic NB on ultrasound at 19 weeks; amniocentesis was performed at 24 weeks due to subsequent early-onset fetal growth restriction. ^[12] In this Opinion, we report and discuss recent findings on LETM1 structure, essentiality, and function and its involvement in Wolf-Hirschhorn syndrome (WHS) and seizures. ^[13] Background Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition caused by partial deletion of short arm of chromosome 4. ^[14] out of two chromosome number 4, one Chromosome 4 has found deleted from 'p' arm small arm In wolf-hirschhorn Syndrome. ^[15] Wolf-Hirschhorn syndrome (WHS) is caused by a distal 4p monosomy usually involving the region of the WHSC1 and WHSC2 genes. ^[16] Among them, there were eight known microdeletion or microduplication syndromes (nine cases) including Williams-Beuren syndrome, 18p deletion syndrome,Wolf-Hirschhorn syndrome, 22q11 duplication syndrome, 16p11. ^[17] 3 deletion (Wolf-Hirschhorn syndrome) showed an abnormal karyotype, whereas all of those with a 22q11–13 deletion showed a normal karyotype. ^[18] BackgroundWolf-Hirschhorn syndrome candidate gene-1 (WHSC1), a histone methyltransferase, has been found to be upregulated and its expression to be correlated with expression of enhancer of zeste homolog 2 (EZH2) in several cancers. ^[19] This article presents the anamnestic, clinical, electro-encephalographic and neuroimaging findings in 5 patients with epilepsy combined with Wolf-Hirschhorn syndrome (WHS). ^[20] 3 terminal deletion; Wolf-Hirschhorn syndrome and case 122 had 7q11. ^[21] Wolf-Hirschhorn Syndrome Candidate 1 (WHSC1; also known as NSD2) is a SET domain-containing histone lysine methyltransferase. ^[22] In the genetic group, there were 1 case of PCDH19 gene mutation, 1 case of cyclin-dependent kinase like 5 (CDKL5) deficiency disorder and 1 case of Wolf-Hirschhorn syndrome. ^[23] Wolf-Hirschhorn syndrome is a polymalformative entity due to the microdeletion in the distal region of the short arm of chromosome 4 (4p16. ^[24] The significance of LETM1 to mitochondrial Ca2+ regulation is evident from Wolf-Hirschhorn syndrome patients that harbor a haplodeficiency in LETM1 expression, leading to dysfunctional mitochondrial Ca2+ handling and from numerous types of cancer cells that show an upregulation of LETM1 expression. ^[25] Rationale: Wolf-Hirschhorn Syndrome (WHS) is a rare disorder caused by the loss of the distal part of the short arm of chromosome 4, and has various phenotypes depending on the deletion size. ^[26] Introduction Wolf-Hirschhorn syndrome is a rare condition including a characteristic facial appearance, delayed growth and development, hypotonia, intellectual disability and seizures. ^[27] 03%, 1/3647), Wolf-Hirschhorn syndrome (0. ^[28] Thus, the fetus was finally diagnosed with Wolf-Hirschhorn syndrome. ^[29] A newborn boy with genetically confirmed Wolf-Hirschhorn syndrome presented with severe bilateral corneal ulceration that required emergency surgical tarsorrhaphies and permanent lower punctal occlusion. ^[30]