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Bosma arhinia microphthalmia syndrome.
Bezerra LL, Sumi DV, Soares CR. Bezerra LL, et al. Pediatr Radiol. 2024 Dec;54(13):2264-2265. doi: 10.1007/s00247-024-06064-7. Epub 2024 Oct 4. Pediatr Radiol. 2024. PMID: 39365446 No abstract available.
Relating SMCHD1 structure to its function in epigenetic silencing.
Gurzau AD, Blewitt ME, Czabotar PE, Murphy JM, Birkinshaw RW. Gurzau AD, et al. Biochem Soc Trans. 2020 Aug 28;48(4):1751-1763. doi: 10.1042/BST20200242. Biochem Soc Trans. 2020. PMID: 32779700 Free PMC article. Review.
The structural maintenance of chromosomes hinge domain containing protein 1 (SMCHD1) is a large multidomain protein involved in epigenetic gene silencing. Variations in the SMCHD1 gene are associated with two debilitating human disorders, facioscapulohumeral muscula …
The structural maintenance of chromosomes hinge domain containing protein 1 (SMCHD1) is a large multidomain protein involved in epige …
The Epigenetic Regulator SMCHD1 in Development and Disease.
Jansz N, Chen K, Murphy JM, Blewitt ME. Jansz N, et al. Trends Genet. 2017 Apr;33(4):233-243. doi: 10.1016/j.tig.2017.01.007. Epub 2017 Feb 20. Trends Genet. 2017. PMID: 28222895 Review.
It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). ...These findings have led to much interest in SMCHD1 …
It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscu …
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. Mul K, et al. Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6. Neurology. 2018. PMID: 29980640 Free PMC article.
OBJECTIVE: To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants i …
OBJECTIVE: To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facio …
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. Gordon CT, et al. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911 Free article.
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. ...This finding is in contrast to the loss-of-function mutations in SMCHD1 tha …
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by comple …
Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.
Atencia Goñi J, Orera Clemente M, Del Valle Diéguez MJ, González Fernández L, González Albarrán O. Atencia Goñi J, et al. Endocrinol Diabetes Nutr (Engl Ed). 2024 Mar;71(3):138-143. doi: 10.1016/j.endien.2024.03.011. Endocrinol Diabetes Nutr (Engl Ed). 2024. PMID: 38555111 Review.
The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the …
The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. …
Bosma arhinia microphthalmia syndrome.
Graham JM Jr, Lee J. Graham JM Jr, et al. Am J Med Genet A. 2006 Jan 15;140(2):189-93. doi: 10.1002/ajmg.a.31039. Am J Med Genet A. 2006. PMID: 16353241
Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. ...These gen …
Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, palatal abnormal …
Prenatal Diagnosis of Arhinia.
Zemtsov GE, Swartz AE, Kuller JA. Zemtsov GE, et al. AJP Rep. 2022 Aug 6;12(2):e127-e130. doi: 10.1055/s-0042-1748521. eCollection 2022 Apr. AJP Rep. 2022. PMID: 35941965 Free PMC article.
Arhinia is a rare congenital anomaly that is not typically associated with known genetic mutations and is usually discovered after an affected infant is born. Prenatal diagnosis is important because neonates with arhinia often require specialized respiratory support …
Arhinia is a rare congenital anomaly that is not typically associated with known genetic mutations and is usually discovered after an …
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM. Lemmers RJLF, et al. J Med Genet. 2019 Oct;56(10):693-700. doi: 10.1136/jmedgenet-2019-106168. Epub 2019 Jun 26. J Med Genet. 2019. PMID: 31243061 Free PMC article.
BACKGROUND: Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). …
BACKGROUND: Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facio …
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature.
Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. Brasseur B, et al. Am J Med Genet A. 2016 May;170A(5):1302-7. doi: 10.1002/ajmg.a.37572. Epub 2016 Feb 3. Am J Med Genet A. 2016. PMID: 26842768
Bosma arhinia microphthalmia syndrome (Bosma syndrome)(OMIM 603457) is a congenital condition characterized by microphthalmia with coloboma, arhinia and endocrine findings in the setting of normal intelligence and brain structure. ...An M …
Bosma arhinia microphthalmia syndrome (Bosma syndrome)(OMIM 603457) is a congenital condition characteriz …
38 results