Traitement par métyrapone du syndrome de Cushing révélant un syndrome de McCune-Albright

Halioui-Louhaïchi, Sonia; Azzabi, O.; Nefzi, L.; Hariz, M. Ben; Mrad, Nadine; Ammar, Ben; Maherzi, A.

doi:10.1016/j.arcped.2005.03.044

Cited by 14 publications

(3 citation statements)

References 10 publications

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“…In addition, we analyzed DNA from a Tunisian sibling pair and from an individual who has sporadic PAP and is living in Paris. 9 Written informed consent was obtained from all study participants. The study was approved by the Comité de Protection des Personnes Île de France II ethical review board.…”

mentioning

confidence: 99%

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Hadchouel

Wieland

Griese

et al. 2015

The American Journal of Human Genetics

104

102

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Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to tRNA and is critical for protein biosynthesis. We identified biallelic missense mutations in MARS in a specific form of pediatric pulmonary alveolar proteinosis (PAP), a severe lung disorder that is prevalent on the island of Réunion and the molecular basis of which is unresolved. Mutations were found in 26 individuals from Réunion and nearby islands and in two families from other countries. Functional consequences of the mutated alleles were assessed by growth of wild-type and mutant strains and methionine-incorporation assays in yeast. Enzyme activity was attenuated in a liquid medium without methionine but could be restored by methionine supplementation. In summary, identification of a founder mutation in MARS led to the molecular definition of a specific type of PAP and will enable carrier screening in the affected community and possibly open new treatment opportunities.

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mentioning

confidence: 99%

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Hadchouel

Wieland

Griese

et al. 2015

The American Journal of Human Genetics

104

102

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“…Yoshimoto et al [15], Bareille et al [18 ]and Kirk et al [19] reported children with severe clinical expression which associated CS with several other signs of MAS. Conversely, the 3-month-old girl reported by Halaoui-Louhaichi et al [20] presented a less severe form with CS and café-au-lait spots. Although the clinical expression in each of these cases was suggestive of MAS, molecular screening for an activating Gsα gene mutation was lacking.…”

Section: Discussionmentioning

confidence: 93%

“…peripheral precocious puberty, café-au-lait spots and polyostotic fibrous dysplasia [9,10]. However, other types of endocrine hyperfunction may also be associated, including CS [11,12,13,14,15,16,17,18,19,20], growth hormone excess [21,22] and hyperthyroidism [23]. Molecular evidence of an activating mutation of the Gsα gene reinforces the diagnosis and, since the spectrum of MAS signs is very wide, any isolated peripheral endocrine overproduction – and not just the classical triad – should prompt analysis of the Gsα gene [24,25,26].…”

Section: Isolated Cushing’s Syndrome: An Unusual Presentation Of Mccumentioning

confidence: 99%

Isolated Cushing’s Syndrome: An Unusual Presentation of McCune-Albright Syndrome in the Neonatal Period

Paris

Philibert²,

Lumbroso³

et al. 2009

Horm Res Paediatr

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Cushing’s syndrome (CS) may develop at any time in childhood. In the neonatal period, the major cause is the overactivation of adrenal cells within the context of McCune-Albright syndrome (MAS). The hypercorticism usually appears with other clinical signs of MAS. We report here a case of isolated neonatal CS as the initial evidence of MAS. This newborn girl was referred to our pediatric endocrine unit at the age of 3 months for hypotonia and growth retardation. Clinical examination revealed facial plethora, moon face, and swollen limbs. Laboratory data demonstrated ACTH-independent CS. Magnetic resonance imaging showed moderate bilateral adrenal hyperplasia, though more marked in the left adrenal gland, without nodules. This peripheral hypercorticism without well-defined adrenal tumor was suggestive of MAS, although no other signs like precocious puberty or café-au-lait spots were found. An activating Gsα gene mutation was found on DNA extracted from blood. Because MAS is a somatic disease, usually with unilateral effects, we tried to remove only the larger adrenal gland, where the mutation was demonstrated. This female newborn later developed the classical triad of MAS, reinforcing this diagnosis. Cushing’s syndrome in infants, even when isolated, may suggest a diagnosis of MAS.

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Genetic diseases in the Tunisian population

Romdhane

Abdelhak

2010

American J of Med Genetics Pt A

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Tunisia is one of the North African countries, geographically situated in a central position at the crossroad between Africa and Europe. The demographic features of the Tunisian population include among others high rates of consanguinity. We report, here on the spectrum of genetic diseases in Tunisia. The review of the literature, including other available information (gray literature) showed that there are at least 346 genetic disorders for which cases have been identified in the Tunisian population. Among these, 62.9% are autosomal recessive, 23% autosomal dominant, 5.4% X-linked, and the remaining are of Y-linked, mitochondrial, and unknown mode of transmission. Fifty percent of the reported conditions in this study are caused by at least one mutation. For autosomal recessive diseases, most of the mutations were identified at homozygous state among the affected individuals. Part of the mutations was the result of a founder effect; these are the consequences of the high rate of consanguinity. The congenital malformations, diseases of the nervous system and metabolic disorders are the major groups of genetic diseases affecting the Tunisian population. The large spectrum of diseases and their relatively high frequency could be explained by the high degree of inbreeding and the presence of multiple mutations, either allelic or in different genes. This is due to the richness of the genetic background of the studied population. A multidisciplinary approach is essential to develop adequate preventive programmes adapted to the social, cultural, and economic context.

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Traitement par métyrapone du syndrome de Cushing révélant un syndrome de McCune-Albright

Cited by 14 publications

References 10 publications

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

Isolated Cushing’s Syndrome: An Unusual Presentation of McCune-Albright Syndrome in the Neonatal Period

Genetic diseases in the Tunisian population

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