Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature

Battaglia, Agatino; Calhoun, Amy; Lortz, Amanda; Carey, John C.

doi:10.1002/ajmg.a.40469

Cited by 12 publications

(13 citation statements)

References 22 publications

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“…Only 11 adults with WHS have been reported so far, with age range between 19 and 37 years (Battaglia et al, 2018; Coppola et al, 2013; Lopes et al, 2005; Ogle et al, 1996; Opitz, 1995; Prunotto et al, 2013; Smith et al, 1995). Eight of 11 were said to have health problems, such as, severe thoracic or thoracolumbar scoliosis, acute pancreatitis, hepatitis, gallstones, diabetes (developed at age 22 years in one), and chronic renal failure following bilateral renal hypoplasia.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, Prunotto et al (2013) reported on two adult WHS patients in whom hepatic adenomas were detected at age 20 and 11 years, respectively. More recently, Battaglia et al (2018) documented four previously undescribed individuals with WHS who developed hepatic neoplasia between ages 15 and 32. Therefore, we are planning to study as many adults with WHS as we can recruit, in order to obtain the most accurate natural history information.…”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, information on long‐term survival in WHS is very limited. Only 11 adults with WHS are described in the medical literature, with age range between 19 and 37 years (Battaglia et al, 2018; Coppola et al, 2013; Lopes et al, 2005; Ogle et al, 1996; Opitz, 1995; Prunotto et al, 2013; Smith et al, 1995). The purpose of the present study is to help delineate in more detail and over a lifetime the natural history of WHS, in order to establish more appropriate health supervision and anticipatory guidance for all individuals with this condition.…”

Section: Introductionmentioning

confidence: 99%

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Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals

Battaglia

Lortz²,

Carey

2021

American J of Med Genetics Pt A

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Wolf–Hirschhorn syndrome (WHS) is a contiguous gene disorder, clinically delineated by prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The disorder is caused by partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). Although more than 300 persons with WHS have been reported in the literature, there is sparse, if any, long‐term follow‐up of these individuals and thus little knowledge about course and potential further complications and health risks during adulthood and advanced age. This study attempted to assess medical conditions and function of adult individuals with WHS. It was one component of a two‐part investigation on adults with WHS. The other part of the study is the patient‐reported outcomes study reported elsewhere. About 35 individuals with WHS (26 females; nine males), aged between 19 and 55 years were recruited. About 25 individuals were personally observed at the IRCCS Stella Maris Foundation by A.B. and followed up between 5 and 20 years; and 10 were recruited from the 4p‐Support Group, The United States. Of note, 23/35 (66%) are close to total care. About 11 out of 35 (31%) were partly self‐independent, requiring supervision on certain daily routines, and 1 out of 35 (3%) was fully independent. However, a positive perspective is given by the overall good health enjoyed by the 66% of our cohort of individuals. Overall, quality of life and level of function into adulthood appear to be less critical than anticipated from previous studies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals

Battaglia

Lortz²,

Carey

2021

American J of Med Genetics Pt A

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“…Tumors have been reported in several WHS cases (49–52). In particular, the discovery of neuroblastoma in a child with WHS implicated the association of these two phenotypes (51).…”

Section: New Insights Into Tumorigenesismentioning

confidence: 99%

LETM1 is required for mitochondrial homeostasis and cellular viability (Review)

Tran

Shrestha

et al. 2019

Mol Med Report

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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. LETM1 is a mitochondrial inner membrane protein that encodes a homolog of the yeast protein Mdm38, which is involved in mitochondrial morphology. In the present review, the importance of LETM1 in WHS and its role within the mitochondrion was explored. LETM1 governs the mitochondrion ion channel and is involved in mitochondrial respiration. Recent studies have reported that LETM1 acts as a mitochondrial Ca 2+ /H + antiporter. LETM1 has also been identified as a K + /H + exchanger, and serves a role in Mg 2+ homeostasis. The function of LETM1 in mitochondria regulation is regulated by its binding partners, carboxyl-terminal modulator protein and mitochondrial ribosomal protein L36. Therefore, we describe the remarkable role of LETM1 in mitochondrial network physiology and its function in mitochondrion-mediated cell death. In the context of these findings, we suggest that the participation of LETM1 in tumorigenesis through the alteration of cancer metabolism should be investigated. This review provides a comprehensive description of LETM1 function, which is required for mitochondrial homeostasis and cellular viability.

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“…), обусловливающих имеющийся у ребенка клинический симптомокомплекс. Учитывая постоянное продолжающееся внешнее и внутреннее радиационное облучение в связи с проживанием в зоне радиацион-ного загрязнения, нельзя в дальнейшем исключить высокий риск развития злокачественных новообразований у ребенка [7].…”

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The case of rare genetic mutation in a child with the Wolf–Hirschhorn syndrome from the family irradiated during the Chernobyl accident

Сафонова

Сипягина

Балева

et al. 2019

Ross. vestn. perinatol. pediatr.

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Wolf – Hirschhorn syndrome is a rare genetic disease caused by the deletion of the end of the short arm of the 4th chromosome; it is manifested by numerous congenital malformations, delayed physical and psychomotor development. The article describes clinical experience of managing a patient with Wolff – Hirschhorn syndrome born to exposed parents who lived in a territory contaminated with radionuclides after the Chernobyl accident. The article describes pathogenetic aspects of the development of the disease and the need for timely diagnostics.

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Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature

Cited by 12 publications

References 22 publications

Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals

Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals

LETM1 is required for mitochondrial homeostasis and cellular viability (Review)

The case of rare genetic mutation in a child with the Wolf–Hirschhorn syndrome from the family irradiated during the Chernobyl accident

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