Castanet, Mireille Sura-Trueba, Sylvia Chauty, Anne Carré, Aurore Nicolas de Roux Heath, Simon Léger, Juliane Stanislas Lyonnet Czernichow, Paul Michel Polak
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Published in
European Journal of Human Genetics
The pathophysiology of thyroid dysgenesis (TD) is not elucidated yet in the majority of cases. The unexpected familial clustering of congenital hypothyroidism due to TD suggests a genetically determined disorder. Four genes have been hitherto involved in thyroid development, including migration and growth. Three of these encode transcription factor...
Anney, Richard J L Kenny, Elaine M O'Dushlaine, Colm Yaspan, Brian L Parkhomenka, Elena Buxbaum, Joseph D Sutcliffe, James Gill, Michael Gallagher, Louise Buxbaum, Joseph D
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Published in
European journal of human genetics : EJHG
Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test meth...
Goldenberg, Alice Lardennois, Caroline Metodiev, Metodi Dimitrov Haberberger, Birgit Haack, Tobias Munnich, Arnold Prokisch, Holger Agnès Rötig Collet, Marie Assouline, Zahra
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Published in
European Journal of Human Genetics
Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mitochondrial respiratory chain complex I deficiency in early childhood. We retrospectively studied a series of 20 unrelated children with cardiac hypertrophy and isolated complex I deficiency and identified compound he...
Sanlaville, Damien Genevieve, David Bernardin, Céline Amiel, Jeanne Baumann, Clarisse de Blois, Marie-Christine Valérie Cormier-Daire Gerard, Bénédicte Gerard, Marion Le Merrer, Martine
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Published in
European Journal of Human Genetics
Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32 000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis of KS remains unknown. Recently, Milunsky and Huang reported on six un...
Philippe, Orianne Rio, Marlène Malan, Valérie Van Esch, Hilde Baujat, Geneviève Bahi-Buisson, Nadia Valayannopoulos, Vassili Gesny, Roseline Bonnefont, Jean-Paul Munnich, Arnold
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Published in
European Journal of Human Genetics
One of the key signals regulating peripheral myelin formation by Schwann cell is the activation of the transcription factor NF-κB. Yet, whether NF-κB exerts similar functions in central myelin formation by oligodendrocytes remains largely unknown. We previously reported white matter abnormalities with unusual discordance between T2 and FLAIR sequen...
Gannon, Tamsin Perveen, Rahat Schlecht, Hélene Ramsden, Simon Anderson, Beverley Kerr, Bronwyn Day, Ruth Banka, Siddharth Suri, Mohnish Berland, Siren
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Published in
European journal of human genetics : EJHG
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causati...
Pierre Rustin Munnich, Arnold Agnès Rötig
Published in
European Journal of Human Genetics
Inherited defects of the mitochondrial succinate dehydrogenase (SDH) in humans are associated with striking variable clinical presentations ranging from early-onset devastating encephalomyopathy to tumour susceptibility in adulthood, or optic atrophy in the elderly. Although different genes encoding the four subunits of the SDH have been found muta...
Heuertz, Solange Le Merrer, Martine Zabel, Bernhard Wright, Michael Legeai-Mallet, Laurence Valérie Cormier-Daire Gibbs, Linda Bonaventure, Jacky
Published in
European Journal of Human Genetics
Achondroplasia (ACH) and hypochondroplasia (HCH) are two autosomal-dominant skeletal disorders caused by recurrent missense FGFR3 mutations in the transmembrane (TM) and tyrosine kinase 1 (TK1) domains of the receptor. Although 98% of ACH cases are accounted for by a single G380R substitution in the TM, a common mutation (N540K) in the TK1 region i...
