Genomes and Genes
Experts and Doctors on pedigree in Strasbourg, Alsace Champagne Ardenne Lorraine, France
Locale: Strasbourg, Alsace Champagne Ardenne Lorraine, France
- Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher..We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia. ..
- Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016;98:500-513 pubmed publisher..This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. ..
- Marion V, Stutzmann F, Gerard M, De Melo C, Schaefer E, Claussmann A, et al. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet. 2012;49:317-21 pubmed publisher..The 16 BBS genes known to date are implied in the primary cilia related cellular pathways...
- Bloch Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, et al. Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. Am J Hum Genet. 2011;89:773-81 pubmed publisher..Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. Moreover, smoc2 depletion in zebrafish affected the expression of three major odontogenesis genes: dlx2, bmp2, and pitx2. ..
- Carelle Calmels N, Saugier Veber P, Girard Lemaire F, Rudolf G, Doray B, Guerin E, et al. Genetic compensation in a human genomic disorder. N Engl J Med. 2009;360:1211-6 pubmed publisher..This finding has implications for genetic counseling and represents a case of genetic compensation in a human genomic disorder. ..
- Stoetzel C, Muller J, Laurier V, Davis E, Zaghloul N, Vicaire S, et al. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet. 2007;80:1-11 pubmed
- Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, et al. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet. 2006;14:1195-203 pubmed
- Chaouat A, Coulet F, Favre C, Simonneau G, Weitzenblum E, Soubrier F, et al. Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. Thorax. 2004;59:446-8 pubmed..This report highlights the critical role of the TGF-beta signalling pathway in this condition...
- Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, et al. Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin Genet. 2003;63:117-20 pubmed..Magnetic Resonance Imaging (MRI) of the orbit, in one family, showed absence or hypotrophy of the eyelid superior levator muscle suggesting a possible role of FOXL2 in the development of this extra-ocular muscle...
- Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, et al. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet. 2003;112:135-42 pubmed..The spectrum of mutations is now enlarged from the very severe classic neonatal phenotype to very mild phenotype allowing survival to the age of 67 years. ..
- Tosch V, Rohde H, Tronchère H, Zanoteli E, Monroy N, Kretz C, et al. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet. 2006;15:3098-106 pubmed..We propose that impairment of hJUMPY function is implicated in some cases of autosomal CNM and that hJUMPY cooperates with myotubularin to regulate the level of phosphoinositides in skeletal muscle. ..
- Stoetzel C, Laurier V, Faivre L, Megarbane A, Perrin Schmitt F, Verloes A, et al. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet. 2006;51:81-4 pubmed..Two of the three families have homozygous mutations and one has a heterozygous mutation. Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions. ..
- Nehme N, Schmid J, Debeurme F, Andre Schmutz I, Lim A, Nitschke P, et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood. 2012;119:3458-68 pubmed publisher..Our results characterize a new mechanism in primary T-cell immunodeficiencies and highlight a role of the MST1/FOXO1 pathway in controlling the death of human naive T cells. ..
- Collongues N, Depienne C, Boehm N, Echaniz Laguna A, Samama B, Durr A, et al. Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality. Eur J Neurol. 2013;20:398-401 pubmed publisher..This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport. ..
- Mosser J, Douar A, Sarde C, Kioschis P, Feil R, Moser H, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature. 1993;361:726-30 pubmed..The deduced protein sequence shows significant sequence identity to a peroxisomal membrane protein of M(r) 70K that is involved in peroxisome biogenesis and belongs to the 'ATP-binding cassette' superfamily of transporters...
- Duclos F, Rodius F, Wrogemann K, Mandel J, Koenig M. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. Hum Mol Genet. 1994;3:909-14 pubmed..The lack of causative mutations in the three genes and the position of the recombination further delineate the FRDA locus to a 300 kb interval. ..
- de la Salle C, Baas M, Lanza F, Schwartz A, Hanau D, Chevalier J, et al. A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I). Br J Haematol. 1995;89:386-96 pubmed