Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions

Hormone Research in Paediatrics

Volumn 80, Issue 6, 2014, Pages 406-412

  Walenkamp, M J E ^a   Klammt, J ^c   Feigerlova, E ^d   Losekoot, M ^b   Van Duyvenvoorde, H A ^b   Hwa, V ^d   Pfaffle R ^c   Wit, J M ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Growth hormone insensitivity; Growth hormone receptor; Intron mutation; Pseudoexon

Indexed keywords

DNA; GROWTH HORMONE RECEPTOR; SOMATOMEDIN C; STAT5B PROTEIN; GROWTH FACTOR; INSULIN LIKE GROWTH FACTOR BINDING PROTEIN ACID LABILE SUBUNIT; UNCLASSIFIED DRUG;

ARTICLE; BODY MASS; CATCH UP GROWTH; CELL SURFACE; CHILD; EXON; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GROWTH DISORDER; GROWTH HORMONE RELEASE; HETEROZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SHORT STATURE; SIBLING; CASE REPORT; CONSANGUINITY; DNA SEQUENCE; ENDOCRINE FUNCTION; GENETIC CODE; GENETIC VARIABILITY; GESTATIONAL AGE; GROWTH HORMONE INSENSITIVITY; SURINAME; X CHROMOSOME;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC TESTING; GROWTH DISORDERS; HUMANS; INTRONS; MALE; PEDIGREE; RECEPTORS, SOMATOTROPIN; SEQUENCE DELETION; SIBLINGS;

EID: 84893095274     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000355928     Document Type: Article

References (14)

1. Wit JM, van Duyvenvoorde HA, Scheltinga SA, de Bruin S, Hafkenscheid L, Kant SG, Ruivenkamp CA, Gijsbers AC, van Doorn J, Feigerlova E, Noordam C, Walenkamp MJ, Claahsen-van de Grinten H, Stouthart P, Bonapart IE, Pereira AM, Gosen J, Delemarre-van de Waal HA, Hwa V, Breuning MH, Domené HM, Oostdijk W, Losekoot M: Genetic analysis of short children with apparent growth hormone insensitivity. Horm Res Paediatr 2012; 77: 320-333.
2. Niklasson A, Ericson A, Fryer JG, Karlberg J, Lawrence C, Karlberg P: An update of the Swedish reference standards for weight, length and head circumference at birth for given gestational age (1977-1981). Acta Paediatr Scand 1991; 80: 756-762.
3. de Onis M, Onyango AW, Borghi E, Siyam A, Nishida C, Siekmann J: Development of a WHO growth reference for school-Aged children and adolescents. Bull World Health Organ 2007; 85: 660-667.
4. Hermanussen M, Cole J: The calculation of target height reconsidered. Hormone Res 2003; 59: 180-183.
5. Schönbeck Y, Talma H, van Dommelen P, Bakker B, Buitendijk SE, HiraSing RA, van Buuren S: The world's tallest nation has stopped growing taller: The height of Dutch children from 1955 to 2009. Pediatr Res 2013; 73: 371-377.
6. Cole TJ, Roede MJ: Centiles of body mass index for Dutch children aged 0-20 years in 1980-A baseline to assess recent trends in obesity. Ann Hum Biol 1999; 26: 303-308.
7. Fredriks AM, van Buuren S, Burgmeijer RJ, Meulmeester JF, Beuker RJ, Brugman E, Roede MJ, Verloove-Vanhorick SP, Wit JM: Continuing positive secular growth change in The Netherlands 1955-1997. Pediatr Res 2000; 47: 316-323.
8. Rikken B, van Doorn J, Ringeling A, Van den Brande JL, Massa G, Wit JM: Plasma levels of insulin-like growth factor (IGF)-I, IGF-II and IGF-binding protein-3 in the evaluation of childhood growth hormone deficiency. Hormone Res 1998; 50: 166-176.
9. Jorge AA, Souza SCAL, Arnhold IJP, Mendonca BB: The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: Suppression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration. Clin Endocrinol 2004; 60: 36-40.
10. Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ: Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet 2001; 69: 641-646.
11. David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJ, Savage MO, Metherell LA: An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes. J Clin Endocrinol Metab 2007; 92: 655-659.
12. Maamra M, Milward A, Esfahani HZ, Abbott LP, Metherell LA, Savage MO, Clark AJ, Ross RJ: A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling. J Endocrinol 2006; 188: 251-261.
13. Marín S, Casano-Sancho P, Villarreal-Peña N, Sebastiani G, Pinillos S, Pérez-Dueñas B, Hwa V, Rosenfeld RG, Ibáñez L: Triple A syndrome in a patient with genetic growth hormone insensitivity: Phenotypic effects of two genetic disorders. Horm Res Paediatr 2012; 77: 63-68.
14. David A, Srirangalingam U, Metherell LA, Khoo B, Clark AJ: Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon. J Clin Endocrinol Metab 2010; 95: 3542-3546.