Familial Richner‐Hanhart syndrome in Kuwait: Twelve‐year clinical reassessment by a multidisciplinary approach

el-Badramany, M H; Fawzy, Abdel Rahman; Fårag, T I

doi:10.1002/ajmg.1320600502

Cited by 6 publications

(2 citation statements)

References 23 publications

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“…The previously reported TAT gene mutations were identified in patients from France, Italy, Japan, Scotland, Tunisia and the USA. Although there have been many clinical descriptions of tyrosinaemia type II in patients from the Middle East (al Essa et al 1999;al Hemidan and al Hazzaa 1995;el Badramany et al 1995;Rehak et al 1981;Tallab 1996;Valikhani et al 2006;Yadav and Reavey 1988), the molecular basis has been identified only in Tunisian Arab patients (Charfeddine et al 2006). Our finding of different mutations in the Palestinian Arab patients indicates that this disorder is genetically heterogeneous in the Arab population, rather than having a pan-ethnic molecular basis.…”

Section: Discussionmentioning

confidence: 62%

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping

Maydan

Andresen

Madsen

et al. 2006

J of Inher Metab Disea

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Deficiency of the hepatic cytosolic enzyme tyrosine aminotransferase (TAT) causes marked hypertyrosinaemia leading to painful palmoplantar hyperkeratoses, pseudodendritic keratitis and variable mental retardation (oculocutaneous tyrosinaemia type II or Richner-Hanhart syndrome). Parents may therefore seek prenatal diagnosis, but this is not possible by biochemical assays as tyrosine does not accumulate in amniotic fluid and TAT is not expressed in chorionic villi or amniocytes. Molecular analysis is therefore the only possible approach for prenatal diagnosis and carrier detection. To this end, we sought TAT gene mutations in 9 tyrosinaemia II patients from three consanguineous Palestinian kindreds. In two kindreds (7 patients), the only potential abnormality identified after sequencing all 12 exons and exon-intron boundaries was homozygosity for a silent, single-nucleotide transversion c.1224G > T (p.T408T) at the last base of exon 11. This was predicted to disrupt the 5' donor splice site of exon 11 and result in missplicing. However, as TAT is expressed exclusively in liver, patient mRNA could not be obtained for splicing analysis. A minigene approach was therefore used to assess the effect of c.1224G > T on exon 11 splicing. Transfection experiments with wild-type and c.1224G > T mutant minigene constructs demonstrated that c.1224G > T results in complete exon 11 skipping, illustrating the utility of this approach for confirming a putative splicing defect when cDNA is unavailable. Homozygosity for a c.1249C > T (R417X) exon 12 nonsense mutation (previously reported in a French patient) was identified in both patients from the third kindred, enabling successful prenatal diagnosis of an unaffected fetus using chorionic villous tissue.

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Section: Discussionmentioning

confidence: 62%

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping

Maydan

Andresen

Madsen

et al. 2006

J of Inher Metab Disea

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“…Le gène de structure de la tyrosine amino-transférase cytosolique humaine a été localisé au niveau du chromosome 16 [104]. Le SRH est une affection rare, rapportée dans différents groupes ethniques, et particulièrement dans les pays méditerranéens ou arabes [36,79,113,123,142]. Ce syndrome a été également décrit aux États-Unis [108], en Allemagne [10], au Japon [134].…”

Section: Syndrome De Richner-hanhart (Srh) Ou Tyrosinemie Type IIunclassified

Les kératodermies palmo-plantaires héréditaires

Mokni¹,

Triki²,

Guedamsi³

et al. 2005

Med Chir Pied

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Les kératodermies palmo-plantaires (KPP) sont un groupe hétérogène de maladies cutanées, caractérisées par une hyperkératose des paumes et des plantes, parmi lesquelles on distingue trois groupes : KPP héréditaires, génodermatoses avec KPP et KPP acquises. Les KPP héré-ditaires sont classées selon le mode de transmission, l'aspect clinique et le type d'hyperkératose (diffus, focal ou ponctué), l'atteinte d'autres structures ectodermales, la présence ou l'absence de symptômes associés non ectodermaux, les données histologiques et la physiopathologie. Nous présentons un bilan des connaissances actuelles sur les principales KPP héréditaires.Abstract: Palmoplantar keratoderma (PKK) refers to a genetically heterogenous group of skin diseases characterised by hyperkeratosis of the palms and soles. They can be subdivided into three groups: hereditary PPK, genodermatosis with PPK and aquired PPK. Hereditary forms are classified on the basis of the morphology, distribution of the kyperkeratosis (diffuse, focal or punctate), associated symptoms, mode of inheritance and histopathologic findings. We report a review of the principal hereditary PPK.

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