A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria

Grasko, Jonathan M.; Hooper, Amanda J.; Brown, Jeffrey W.; McKnight, C. James; Burnett, John R.

doi:10.1016/j.cca.2009.03.032

Cited by 10 publications

(5 citation statements)

References 11 publications

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“…Hip pain was frequently reported in the case reports reviewed, e.g. in systemic diseases affecting the hip and facet joints [ 88 , 91 , 92 ], but it was also part of the presentation in cases involving other organs [ 23 , 380 ]. On the other hand, hip pathology can lead to LBP.…”

Section: Resultsmentioning

confidence: 99%

Extravertebral low back pain: a scoping review

Kunow,

Freyer Martins Pereira,

Chenot

2024

BMC Musculoskelet Disord

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Background Low back pain (LBP) is one of the most common reasons for consultation in general practice. Currently, LBP is categorised into specific and non-specific causes. However, extravertebral causes, such as abdominal aortic aneurysm or pancreatitis, are not being considered. Methods A systematic literature search was performed across MEDLINE, Embase, and the Cochrane library, complemented by a handsearch. Studies conducted between 1 January 2001 and 31 December 2020, where LBP was the main symptom, were included. Results The literature search identified 6040 studies, from which duplicates were removed, leaving 4105 studies for title and abstract screening. Subsequently, 265 publications were selected for inclusion, with an additional 197 publications identified through the handsearch. The majority of the studies were case reports and case series, predominantly originating from specialised care settings. A clear distinction between vertebral or rare causes of LBP was not always possible. A range of diseases were identified as potential extravertebral causes of LBP, encompassing gynaecological, urological, vascular, systemic, and gastrointestinal diseases. Notably, guidelines exhibited inconsistencies in addressing extravertebral causes. Discussion Prior to this review, there has been no systematic investigation into extravertebral causes of LBP. Although these causes are rare, the absence of robust and reliable epidemiological data hinders a comprehensive understanding, as well as the lack of standardised protocols, which contributes to a lack of accurate description of indicative symptoms. While there are certain disease-specific characteristics, such as non-mechanical or cyclical LBP, and atypical accompanying symptoms like fever, abdominal pain, or leg swelling, that may suggest extravertebral causes, it is important to recognise that these features are not universally present in every patient. Conclusion The differential diagnosis of extravertebral LBP is extensive with relatively low prevalence rates dependent on the clinical setting. Clinicians should maintain a high index of suspicion for extravertebral aetiologies, especially in patients presenting with atypical accompanying symptoms.

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Section: Resultsmentioning

confidence: 99%

Extravertebral low back pain: a scoping review

Kunow,

Freyer Martins Pereira,

Chenot

2024

BMC Musculoskelet Disord

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“…Other studies described a variety of other mutations and polymorphisms in the HGD gene in AKU patients from many different countries [12][13][14][15][16]. Most of the mutations identified so far were 62 missense, 13 splice site, 10 frameshift, and 5 nonsense and were found in exons 3, 6, 8, and 13 [11].…”

Section: Discussionmentioning

confidence: 98%

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria

Alsbou

2011

Rheumatol Int

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This study was conducted to identify mutations in the homogentisate 1,2 dioxygenase gene (HGD) in alkaptonuria patients among Jordanian population. Blood samples were collected from four alkaptonuria patients, four carriers, and two healthy volunteers. DNA was isolated from peripheral blood. All 14 exons of the HGD gene were amplified using the polymerase chain reaction (PCR) technique. The PCR products were then purified and analyzed by sequencing. Five mutations were identified in our samples. Four of them were novel C1273A, T1046G, 551-552insG, T533G and had not been previously reported, and one mutation T847C has been described before. The types of mutations identified were two missense mutations, one splice site mutation, one frameshift mutation, and one polymorphism. We present the first molecular study of the HGD gene in Jordanian alkaptonuria patients. This study provides valuable information about the molecular basis of alkaptonuria in Jordanian population.

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“…From more recent works, Grasko et al reported that the K57N missense mutation most likely exerts its effect by interfering with substrate traffic at the active site (Grasko et al 2009). …”

Section: Hgd Gene Mutation Hot Spotsmentioning

confidence: 96%

“…Mutation screening within the HGD gene has been performed in several countries, and until recently 96 mutations and 33 HGD polymorphisms had been encountered, including three variable dinucleotide repeats, HGO1-3 (Aquaron et al 2009;Beltrán-Valero de Bernabé et al 1998, 1999aFelbor et al 1999;Fernández-Cañón et al 1996;Gehrig et al 1997;Goicoechea De Jorge et al 2002;Grasko et al 2009;Higashino et al 1998;Ladjouze-Rezig et al 2006;Mannoni et al 2004;Muller et al 1999;Phornphutkul et al 2002;Porfirio et al 2000;Ramos et al 1998;Rodríguez et al 2000;Toth et al 2010;Uyguner et al 2003;Vilboux et al 2009;Walter et al 1999;Zatkova et al 2000a, b; AKUdatabase: http://www.alkaptonuria.cib.csic.es). In addition, recently we described 11 novel HGD mutations discovered during the analysis of 13 index AKU patients from Slovak families and a further 15 index cases from different countries sent to our laboratory for mutation analysis (Zatkova et al 2011).…”

Section: Mapping and Cloning Of The Human Aku Genementioning

confidence: 98%

An update on molecular genetics of Alkaptonuria (AKU)

Zaťková

2011

J of Inher Metab Disea

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Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. The defect is caused by mutations in the HGD gene, which maps to the human chromosome 3q21-q23. AKU shows a very low prevalence (1:100,000-250,000) in most ethnic groups, but there are countries such as Slovakia and the Dominican Republic in which the incidence of this disorder rises to as much as 1:19,000. In this work, we summarize the genetic aspects of AKU in general and the distribution of all known disease-causing mutations reported so far. We focus on special features of AKU in Slovakia, which is one of the countries with an increased incidence of this rare metabolic disorder.

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A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria

Cited by 10 publications

References 11 publications

Extravertebral low back pain: a scoping review

Extravertebral low back pain: a scoping review

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria

An update on molecular genetics of Alkaptonuria (AKU)

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