{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"contact_person":["Asif Javed"],"full_dataset_link":["https://ega-archive.org/dacs/EGAC00001000583"],"host":["EGA"],"description":["EGA DAC EGAC00001000583"],"repository":["EGA"],"email":["javeda@gis.a-star.edu.sg"],"pubmed_abstract":["Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD."],"pubmed_title":["De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development."],"pubmed_authors":["Gordon Christopher T CT, Xue Shifeng S, Yigit Gökhan G, Filali Hicham H, Chen Kelan K, Rosin Nadine N, Yoshiura Koh-Ichiro KI, Oufadem Myriam M, Beck Tamara J TJ, McGowan Ruth R, Magee Alex C AC, Altmüller Janine J, Dion Camille C, Thiele Holger H, Gurzau Alexandra D AD, Nürnberg Peter P, Meschede Dieter D, Mühlbauer Wolfgang W, Okamoto Nobuhiko N, Varghese Vinod V, Irving Rachel R, Sigaudy Sabine S, Williams Denise D, Ahmed S Faisal SF, Bonnard Carine C, Kong Mung Kei MK, Ratbi Ilham I, Fejjal Nawfal N, Fikri Meriem M, Elalaoui Siham Chafai SC, Reigstad Hallvard H, Bole-Feysot Christine C, Nitschké Patrick P, Ragge Nicola N, Lévy Nicolas N, Tunçbilek Gökhan G, Teo Audrey S M AS, Cunningham Michael L ML, Sefiani Abdelaziz A, Kayserili Hülya H, Murphy James M JM, Chatdokmaiprai Chalermpong C, Hillmer Axel M AM, Wattanasirichaigoon Duangrurdee D, Lyonnet Stanislas S, Magdinier Frédérique F, Javed Asif A, Blewitt Marnie E ME, Amiel Jeanne J, Wollnik Bernd B, Reversade Bruno B"],"name_synonyms":["microphthalmia, WES, Complete Transcriptome, BOSMA arhinia microphthalmia syndrome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Complete Exome Sequencing, Whole Transcriptome Sequencing, Exome, choanal atresia, Bosma arhinia microphthalmia syndrome, Sequencing, Exome Sequencing, Whole Exome, and hypogonadotropic hypogonadism, Whole, Whole Exome Sequencing, Whole Transcriptome, Transcriptome Sequencing, Transcriptome Sequencings, BAMS, arhinia, Complete Exome."],"pubmed_title_synonyms":["Mutations, Bosma Henkin Christiansen syndrome, development, microphthalmia, BOSMA arhinia microphthalmia syndrome, and hypogonadotropic hypogonadism, 4931400A14Rik, postnatal development., and microphthalmia, single-organism developmental process, MommeD1, AW554188, congenital absence of nose and anterior nasopharynx, postnatal growth, choanal atresia, arhinia choanal atresia microphthalmia, growth and development, Bosma arhinia microphthalmia syndrome, growth, mKIAA0650, BAMS, arhinia"],"pubmed_abstract_synonyms":["MGC130048, Dnahc8, single-organism developmental process, postnatal development, muscular dystrophy, A4, growth and development, Progress Reports, protein, Mutations, Facio-Scapulo-Humeral Dystrophy, diseases, proboInOwlscis, Summary Report, 1802), DNA-Dependent ATPase, diseases and disorders, Muscular Dystrophies, protein aggregate, BAMS, Summary Reports, ATPases, Facioscapulohumeral Type, olfactory apparatus, Landouzy-Dejerine myopathy, gamma sarcoglycan, microphthalmia, human disease, thymus nucleic acid, Progress Report, Facioscapulohumeral Atrophy, Epigenomic, Bosma Henkin Christiansen syndrome, Progress, Xenopus laevis (Daudin, FSHD - Facioscapulohumeral muscular dystrophy, Field Reports, Adenosinetriphosphatase, DNA-Dependent Adenosinetriphosphatases, Facioscapuloperoneal Muscular Dystrophy, Therapies, gamma-sarcoglycan, Allele, Homo sapiens disease, Double-Stranded DNA, deoxyribonucleic acids, DNAn, Facioscapulohumeral Atrophies, arhinia, Diagnostic Findings, Facioscapulohumeral myopathy, Therapy, SIGNS SYMPTOMS, FSH dystrophy, Facioscapulohumeral, African clawed frog, DESC, congenital absence of nose and anterior nasopharynx, SG-gamma, Hst6.7b, common platanna, Facioscapulohumeral Muscular Dystrophy, clawed frog <Xenopus laevis>, Double-Stranded, Landouzy-Dejerine muscular dystrophy., results, Noses, (Deoxyribonucleotide)n+m, FSHD, Investigative Report, arhinia choanal atresia microphthalmia, sarcoglycan, DNA-Dependent, External, ATP phosphohydrolase, regulator, desoxyribose nucleic acid, facioscapulohumeral myopathy, absence, Epigenetic, Field, External Nose, Triphosphatase, gamma (35kDa dystrophin-associated glycoprotein), Treatments, Adenosinetriphosphatases, Adenosine, disease, Report, DMDA, 35kD dystrophin-associated glycoprotein, ds DNA, DNA, Epigenetics, Clinical Finding, Landouzy-Déjérine muscular dystrophy, Platannas, other disease, Allelomorphs, Landouzy-Dejerine Dystrophies, BOSMA arhinia microphthalmia syndrome, DNS, SGCG_HUMAN, (Deoxyribonucleotide)n, Gene, Bosma arhinia microphthalmia syndrome, protein-containing complex, TYPE, P1-Loop, Deoxyribonucleic acids, Symptoms and Signs, DAGA4, Investigative, Deoxyribonucleic Acid, Landouzy Dejerine muscular dystrophy, nasal sac, 35DAG, Gene Products, disease or disorder, clawed frog, Finding, MAM, gamma-SG, SCG3, peripheral olfactory organ, FMD - Facioscapulohumeral muscular dystrophy, AW554188, absent from organism, Atrophy, Double Stranded, facioscapulohumeral muscular dystrophy, Deoxyribonucleic acid, Facioscapulohumeral muscular dystrophy (disorder), Muscular Dystrophy, non-neoplastic, Allelomorph, FSH - Facioscapulohumeral muscular dystrophy, Landouzy-Dejerine, ATPase, disorder, DNA Dependent, (Deoxyribonucleotide)m, Fascioscapulohumeral muscular dystrophy, Investigative Reports, FSH Muscular Dystrophy, Dystrophy, DNA Dependent ATPase, nasus, 4931400A14Rik, and microphthalmia, 35 kDa dystrophin-associated glycoprotein, protein complex, DNAn+1, X. laevis, Progressive Muscular Dystrophy, Proteins, Landouzy Dejerine, disorders, medical condition, function, SGCG, LGMD2C, Facioscapulohumeral muscular dystrophy, DNA Dependent Adenosinetriphosphatases, development, proboscis, Signs and Symptoms, native protein, Dystrophies, MommeD1, Landouzy Dejerine Dystrophy, Research Reports, Protein, condition, Bufo laevis, Xenopus leavis, rare (European definition), ds-DNA, Facioscapulohumeral Type Progressive Muscular Dystrophy, Atrophies, Landouzy-Dejerine muscular dystrophy, Facioscapulohumeral Muscular, Adenosine Triphosphatase, DMDA1, hdhc9, postnatal growth, choanal atresia, Nose, Landouzy-Dejerine Dystrophy, mKIAA0650, nose, Protein Gene Products, Gene Proteins, and hypogonadotropic hypogonadism, Reports, Therapeutic, Facioscapulohumeral Muscular Dystrophies, facioscapulohumeral dystrophy, chemosensory sensory organ, SCARMD2, Desoxyribonukleinsaeure, Treatment, platanna, Summary, X. laevi, Platanna, growth, Field Report, External Noses"],"additional_accession":[]},"is_claimable":false,"name":"Data access committee for BAMS exome sequencing data.","description":"Data Access Committee EGAC00001000583","dates":{"output":"2025-1-9"},"accession":"EGAC00001000583","cross_references":{"TAXONOMY":["9606"],"pubmed":["28067911"],"EGA":["EGAS00001002193","EGAD00001003130"]}}