ANE syndrome caused by mutated RBM28 gene: A novel etiology of combined pituitary hormone deficiency

European Journal of Endocrinology

Volumn 162, Issue 6, 2010, Pages 1021-1025

  Spiegel, Ronen ^a,b   Shalev, Stavit A ^a,b   Adawi, Amin ^c   Sprecher, Eli ^b,d   Tenenbaum Rakover, Yardena ^a,b  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c Nazareth Hospital   (Israel)

^d TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; CLONIDINE; CORTICOTROPIN; FOLLITROPIN; GONADORELIN; GONADOTROPIN; GROWTH HORMONE; HYDROCORTISONE; LIOTHYRONINE; LUTEINIZING HORMONE; PROLACTIN; PROTIRELIN; RBM28 PROTEIN; SOMATOMEDIN C; TESTOSTERONE; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG;

ADRENAL INSUFFICIENCY; ADULT; ALOPECIA NEUROLOGICAL DEFECT AND ENDOCRINOPATHY SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; COMBINED PITUITARY HORMONE DEFICIENCY; CORTICOTROPIN BLOOD LEVEL; CORTICOTROPIN DEFICIENCY; FOLLITROPIN BLOOD LEVEL; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GONADOTROPIN BLOOD LEVEL; GROWTH HORMONE BLOOD LEVEL; HORMONE DEFICIENCY; HORMONE RESPONSE; HORMONE SUBSTITUTION; HUMAN; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHYROIDISM; LOSS OF FUNCTION MUTATION; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; PROTEIN BLOOD LEVEL; PROVOCATION TEST; PUBERTY DISORDERS; SHORT STATURE; SIBLING; TESTOSTERONE BLOOD LEVEL; THYROTROPIN BLOOD LEVEL;

ADULT; ALOPECIA; ENDOCRINE SYSTEM DISEASES; HUMANS; HYPOPITUITARISM; MALE; MUTATION; NERVOUS SYSTEM DISEASES; RNA-BINDING PROTEINS; SIBLINGS; SYNDROME;

EID: 77952688911     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0077     Document Type: Article

References (26)

1. Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, Adir N, Lipkin E, Bercovici S, Geiger D, van Steensel MA, Steijlen PM, Bergman R, Bindereif A, Choder M, Shalev SA & Sprecher E. Alopecia, neurological defects and endocrinopathy (ANE) syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. American Journal of Human Genetics 2008 82 1114-1121.
2. Damianov A, Kann M, Lane WS & Bindereif A. Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs. Biological Chemistry 2006 387 1455-1460. (Pubitemid 44691427)
3. Kelberman D & Dattani MT. Hypopituitarism oddities: congenital causes. Hormone Research 2007 68 138-144.
4. Kelberman D & Dattani MT. Hypothalamic and pituitary development: novel insights into the aetiology. European Journal of Endocrinology 2007 157 S3-S14. (Pubitemid 47439668)
5. Padidela R, Kelberman D, Press M, Al-Khawari M, Hindmarsh PC & Dattani MT. Mutation in the TBCE gene is associated with hypoparathyroidism- retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. Journal of Clinical Endocrinology and Metabolism 2008 94 2686-2691.
6. Diaczok D, Romero C, Zunich J, Marshall I & Radovick S. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism 2009 93 4351-4358.
7. Pfaffle RW, DiMattia GE, Parks JS, Brown MR, Wit JM, Jansen M, Van der Nat H, Van den Brande JL, Rosenfeld MG & Ingraham HA. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science 1992 257 1118-1121.
8. Halász Z, Toke J, Patócs A, Bertalan R, Tömböl Z, Sallai A, Hosszú E, Muzsnai A, Kovács L, Sólyom J, Fekete G & Rácz K. High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. Endocrine 2006 30 255-260. (Pubitemid 47010960)
9. Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA III & Rosenfeld MG. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nature Genetics 1998 18 147-149. (Pubitemid 28082461)
10. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JKH, Hindmarsh PC, Krauss S, Beddington RSP & Robinson ICAF. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics 1998 19 125-133. (Pubitemid 28248792)
11. Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, von Mores A, Goossens M, Gruters A & Amselem S. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nature Genetics 2000 25 182-186. (Pubitemid 30394989)
12. Machinis K, Pantel J, Netchine I, Léger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P & Amselem S. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. American Journal of Human Genetics 2001 69 961-968. (Pubitemid 33015811)
13. Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF & Rhodes SJ. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. Journal of Clinical Endocrinology and Metabolism 2008 93 1062-1071. (Pubitemid 351398593)
14. Laumonnier F, Ronce N, Hamel BCJ, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C & Briault S. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. American Journal of Medical Genetics 2002 71 1450-1455. (Pubitemid 36015898)
15. Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JRO, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V & Fitzpatrick DR. SOX2 anophthalmia syndrome. American Journal of Medical Genetics 2005 135 1-7.
16. Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V & Fitzpatrick DR. Mutations in SOX2 cause anophthalmia- esophageal-genital (AEG) syndrome. Human Molecular Genetics 2006 15 1413-1422.
17. Huelsken J, Vogel R, Erdmann B, Cotsarelis G & Birchmeier W. Beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell 2001 105 533-545. (Pubitemid 32520858)
18. Sprecher E. Genetic hair and nail disorders. Clinics in Dermatology 2005 23 47-55.
19. Thompson CC, Sisk JM & Beaudoin GM III. Hairless and Wnt signaling: allies in epithelial stem cell differentiation. Cell Cycle 2006 5 1913-1917. (Pubitemid 44435293)
20. Mulholland DJ, Dedha S, Coetzee GA & Nelson CC. Interaction of nuclear receptors with the Wnt/beta-catenin/Tcf signaling axis: Wnt you like to know? Endocrine Reviews 2005 26 898-915.
21. Gueorguiev M & Grossman AB. Pituitary gland and beta-catenin signaling: from ontogeny to oncogenesis. Pituitary 2009 12 245-255.
22. Gardner S, Maudsley S, Millar RP & Pawson AJ. Nuclear stabilization of beta-catenin and inactivation of glycogen synthase kinase-3beta by gonadotropin-releasing hormone: targeting Wnt signaling in the pituitary gonadotrope. Molecular Endocrinology 2007 21 3028-3038. (Pubitemid 350223512)
23. Salisbury TB, Binder AK, Grammer JC & Nilson JH. Maximal activity of the luteinizing hormone beta-subunit gene requires beta-catenin. Molecular Endocrinology 2007 21 963-971.
24. Salisbury TB, Binder AK & Nilson JH. Welcoming beta-catenin to the gonadotropin-releasing hormone transcriptional network in gonadotropes. Molecular Endocrinology 2008 22 1295-1303.
25. Olson LE, Tollkuhn J, Scafoglio C, Krones A, Zhang J, Ohgi KA, Wu W, Taketo MM, Kemler R, Grosschedl R, Rose D, Li X & Rosenfeld MG. Homeodomain-mediated beta-catenin-dependent switching events dictate cell lineage determination. Cell 2006 125 593-605.
26. Potok MA, Cha KB, Hunt A, Brinkmeier ML, Leitges M, Kispert A & Camper SA. WNT signaling affects gene expression in the ventral diencephalon and pituitary gland growth. Developmental Dynamics 2008 237 1006-1020. (Pubitemid 351542297)