Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 22-26

  Østergaard, John R ^a   Graakjær, Jesper ^b   Brandt, Carsten ^b   Birkebæk, Niels H ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b LILLEBAELT HOSPITAL   (Denmark)

Author keywords

17p13.3 microdeletion; CRK; Growth hormone; Postnatal growth retardation

Indexed keywords

HUMAN GROWTH HORMONE; RECOMBINANT SOMATOMEDIN C;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME DELETION; CHROMOSOME MICRODELETION 17P13.3; CRK GENE; DRUG DOSE TITRATION; FACE DYSMORPHIA; GENE; GROWTH RETARDATION; HUMAN; LIMB MALFORMATION; MALE; MENTAL DEFICIENCY; MILLER DIEKER SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSTNATAL GROWTH; SCHOOL CHILD; TUSC5 GENE; YWHAE GENE;

CEREBRUM; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; GROWTH DISORDERS; GROWTH HORMONE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-CRK; TUMOR SUPPRESSOR PROTEINS;

EID: 84857195721     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.09.004     Document Type: Article

References (11)

1. Bruno D.L., Anderlid B.-M., Lindstrand A., van Ravenswaaij-Arts C., Ganesamoorthy D., Lundin J., Lse Martin C., Souglas J., Nowak C., Adam M.P., Frank Koy R., Vand der Aa N., Reyniers E., Vandeweyer G., Stolte-Dijkstra I., Dijkhuizen T., Yeung A., Delatycki M., Borgström B., Thelin L., Cardoso C., van Bon B., Pfundt R., de Vries B.A.A., Wallin A., Amor D.J., James P.A., Slater H.R., Schoumans J. Further molecular and clinical delineation of co-location 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J. Med. Genet. 2010, 47:299-311.
2. Albertson-Wiklnad K., Luo Z.C., Niklasson A., Karlberg J. Swedish population-based longitudinal reference values form birth to 18 years of age for height, weight and head circumference. Acta Pædiatr 2002, 91:739-754.
3. Steerneman P., Muris P., Merckrlbach H., Willems H. Assessment of development and abnormal behavior in children with pervasive developmental disorders. Evidence for the reliability of the revised psychoeducational profile. J. Autism Develop Dis. 1997, 27:177-185.
4. Thodberg H.H., Jenni O.G., Caflisch J., Ranke M.B., Martin D.D. Prediction of adult height based on automated determination of bone age. J. Clin. Endocrinol. Metab. 2009, 94:4868-4874.
5. Cardoso C., Leventer R.J., Ward H.L., Toyo-Oka K., Chung J., Cross A., Martin C.L., Allanson J., Pilz D.T., Olney A.H., Mutchinick O.M., Hirotsune S., Wynshaw-Boris A., Dobyns W.B., Ledbetter D.H. Refinement of a 400-kb critical region allows genotype differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 2003, 72:918-930.
6. Sreenath Nagamani S.C., Zhang F., Shchelochkov O.A., Bi W., Ou Z., Scaglia F., Probst F.J., Shinawi M., Eng C., Hunter J.V., Sparagana S., Lagoe E., Fong C.-T., Pearson M., Doco-Fenzy M., Landais E., Mozelle M., Chinault A.C., Patel A., Bacino C.A., Sahoo T., Kang S.H., Cheung S.W., Lupski J.R., Stankiewicz Microdeletion including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphism, growth restriction, and cognitive impairment. J. Med. Genet. 2009, 46:825-833.
7. Mignon-Ravix C., Cacciagli P., El-Waly B., Moncla A., Milh M., Girard N., Chabrol B., Philip N., Villard L. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus collosum hypoplasia. J. Med. Genet. 2010, 47:132-136.
8. Schiff M., Dalahaye A., Andrieux J., Sanlaville D., Vincent-Delorme C., Aboura A., Benzacken B., Bouquillon S., Elmaleh-Berges M., Labalme A., Passemard S., Perrin L., Monouvrier-hanu S., Edery P., Verloes A., Drunat S. Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Eur. J. Med. Genet. 2010, 53:303-308.
9. Robertson S.P., Twigg S.R., Sutherland-Smith A.J., Biancalana V., Gorlin R.J., Horn D., Kenwrick S.J., Kim C.A., Morava E., Newbury-Ecob R., Orstavik K.H., Quarrell O.W., Schwartz C.E., Shears D.J., Suri M., Kendrick-Jones J., Wikie A.O. Localized mutations in the gene encoding the cytoskeleton protein filamin A cause diverse malformations in humans. Nat. Genet. 2003, 33:487-491.
10. Goh E.L.K., Zhu T., Yakar S., LeRoith D., Lobie P.E. CrkII participation in the cellular effects and growth hormone and insulin-like growth factor-1. Phosphatidylinositol-3-kinase dependent and independent effects. J. Biol. Chem. 2000, 275:17683-17692.
11. Hintz R.L., Attie K.M., Baptista J., Roche A. Effect of growth hormone treatment on adult height of children with idiopathic short stature. Genentech Collaborative Group. N. Engl. J. Med. 1999, 340:502-507.