Antibody deficiency in Wolf-Hirschhorn syndrome

Hanley-Lopez, Jean; Estabrooks, Laurel L.; Stiehm, E. Richard

doi:10.1016/s0022-3476(98)70194-5

Cited by 57 publications

(33 citation statements)

References 8 publications

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“…It is also involved in WHS, Witkop syndrome and Pierre Robin syndromes, though mutations might be present in other congenital deformities and may accompany them. Therefore, the gene might be interesting for further studies [8,[36][37][38].…”

Section: Discussionmentioning

confidence: 99%

“…This is caused by the muscular hypotonia, gastroesphegal reflux and recurrent aspiration [8]. Hypotonia may also result in swallowing difficulties and other gastrointestinal disorders (including hepatic adenomas) [19].…”

Section: Congenital Defectsmentioning

confidence: 99%

“…This manifests itself with common variable immunodeficienvy (CvID) and hypogammaglobulinemia. This suggests that patients with WHS represent mutations within the B-cell (CD19) system gene [6,8].…”

Section: Congenital Defectsmentioning

confidence: 99%

“…The majority of cases concern a "pure" deletion of a part of te short arm of chromosome 4, the rest of them are caused by a deformity within the chromosomal structure (ring chromosome, mosaicism or translocation) [4,7]. The rest of the cases are inherited with a translocation within the chromosome [8]. Rarely, a duplication of 4p16 is observed [5].…”

mentioning

confidence: 99%

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Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment (Adv Clin Exp Med 2014, 23, 3, 485-489).

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Section: Discussionmentioning

confidence: 99%

Section: Congenital Defectsmentioning

confidence: 99%

Section: Congenital Defectsmentioning

confidence: 99%

mentioning

confidence: 99%

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Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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“…Defects in the production of immunogluobulin A and common variable immunodeficiency (CVID) are frequently associated with WHS (14). WHS results from a hemizygous deletion of the subtelomeric region of the short arm of chromosome 4.…”

mentioning

confidence: 99%

Wolf–Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage

Hajdú

Ciccia

Lewis

et al. 2011

Proc. Natl. Acad. Sci. U.S.A.

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Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with growth retardation, mental retardation, and immunodeficiency resulting from a hemizygous deletion of the short arm of chromosome 4, called the WHS critical region (WHSC). The WHSC1 gene is located in this region, and its loss is believed to be responsible for a number of WHS characteristics. We identified WHSC1 in a genetic screen for genes involved in responding to replication stress, linking Wolf-Hirschhorn syndrome to the DNA damage response (DDR). Here, we report that the WHSC1 protein is a member of the DDR pathway. WHSC1 localizes to sites of DNA damage and replication stress and is required for resistance to many DNA-damaging and replication stress-inducing agents. Through its SET domain, WHSC1 regulates the methylation status of the histone H4 K20 residue and is required for the recruitment of 53BP1 to sites of DNA damage. We propose that Wolf-Hirschhorn syndrome results from a defect in the DDR.checkpoint | histone methylation | MMSET D amage to DNA occurs continuously, threatening the integrity of our genetic material. The ability to repair DNA lesions is critical for proper organismal development and survival. In response to DNA damage or replication stress, a signal transduction cascade called the DNA damage response (DDR) is activated to maintain genomic integrity (1, 2). The ATM and ATR kinases are central components of the DDR. ATM is recruited and activated by the MRE11-RAD50-NBS1 complex at double-strand breaks (DSBs), where ATM phosphorylates the histone variant H2AX (3, 4). Phosphorylated H2AX then associates with the mediator protein MDC1, which leads to the activation of ubiquitination and sumoylation cascades required for the recruitment of the BRCA1 ubiquitin ligase and the mediator protein 53BP1 to promote DNA repair (5, 6). Unlike ATM, the ATR kinase is activated following its recruitment by its partner protein ATRIP to RPA-coated ssDNA regions generated at stalled or collapsed forks. RPA-ssDNA complexes also recruit the RAD17-RFC2-5 complex that loads the RAD1-RAD9-HUS1 (9-1-1) complex onto DNA. The 9-1-1 complex recruits RHINO (7) and the mediator protein TOPBP1 to further activate ATR (8, 9). ATM and ATR are known to control the phosphorylation of nearly 1,000 effector proteins involved in a wide number of cellular processes, such DNA repair, transcription, chromatin structure, splicing, metabolism, induction of apoptosis, and senescence.The importance of the DDR in human physiology is underscored by the observation that dysregulation of DNA repair pathways can lead to a range of human disorders exhibiting developmental defects, neurological defects, immunodeficiency, and cancer (2, 3). The developmental and neurological defects are likely due to the requirement for extremely accurate DNA repair during the rapid expansion of progenitor cells occurring during embryonic development and for the maintenance of the homeostasis of the nervous system.The number of syndromes associated with neurological and developmenta...

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Wolf‐Hirschhorn (4p‐) Syndrome

Battaglia

Carey

Wright

2005

Management of Genetic Syndromes

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Wolf‐Hirschhorn syndrome is a multiple congenital anomalies/mental retardation disorder due to deletion of the short arm of chromosome 4. A more complete delineation of the phenotype and better definition of this condition has only been possible in the last two decades. Until recently, it was commonly stated that development is severely compromised in affected individuals, and only recent large studies have allowed recognition of a much wider clinical spectrum.

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Antibody deficiency in Wolf-Hirschhorn syndrome

Cited by 57 publications

References 8 publications

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Wolf–Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage

Wolf‐Hirschhorn (4p‐) Syndrome

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