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5. Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.

Author

Genetica Sectie Metabole Diagnostiek, Other research (not in main researchprogram), Işık, E, Haliloglu, B, van Doorn, J, Demirbilek, H, Scheltinga , SA, Losekoot, M, Wit, JM, Genetica Sectie Metabole Diagnostiek, Other research (not in main researchprogram), Işık, E, Haliloglu, B, van Doorn, J, Demirbilek, H, Scheltinga , SA, Losekoot, M, and Wit, JM

Published
2017

6. Determinants of Advanced Bone Age in Childhood Obesity

Author

de Groot, CJ, van den Berg, A, Ballieux, B, Kroon, HM, Rings, Edmond, Wit, JM, van den Akker, Erica, de Groot, CJ, van den Berg, A, Ballieux, B, Kroon, HM, Rings, Edmond, Wit, JM, and van den Akker, Erica

Published
2017

7. Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density

Author

Hannema, Sabine, Wit, JM, Houdijk, Mecam, van Haeringen, A, Bik, E C, Verkerk, Annemieke, Uitterlinden, André, Kant, SG, oostdijk, W, Bakker, E, Delemarre-van de Waal, HA, Losekoot, M, Hannema, Sabine, Wit, JM, Houdijk, Mecam, van Haeringen, A, Bik, E C, Verkerk, Annemieke, Uitterlinden, André, Kant, SG, oostdijk, W, Bakker, E, Delemarre-van de Waal, HA, and Losekoot, M

Published
2016

8. Mutations in TBL1X Are Associated With Central Hypothyroidism

Author

Heinen, CA, Losekoot, M, Sun, Y, Watson, P J, Fairall, L, Joustra, SD, Zwaveling-Soonawala, N, Oostdijk, W (Wilma), van den Akker, Erica, Alders, M, Santen, GWE, van Rijn, RR, Dreschler, WA, Surovtseva, O V, Biermasz, NR, Hennekam, RC, Wit, JM, Schwabe, J W R, Boelen, A, Fliers, E, van Trotsenburg, ASP, Heinen, CA, Losekoot, M, Sun, Y, Watson, P J, Fairall, L, Joustra, SD, Zwaveling-Soonawala, N, Oostdijk, W (Wilma), van den Akker, Erica, Alders, M, Santen, GWE, van Rijn, RR, Dreschler, WA, Surovtseva, O V, Biermasz, NR, Hennekam, RC, Wit, JM, Schwabe, J W R, Boelen, A, Fliers, E, and van Trotsenburg, ASP

Published
2016

9. PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation-In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

Author

oostdijk, W, Idkowiak, J, Mueller, JW, House, PJ, Taylor, AE, O'Reilly, MW, Hughes, BA, de Vries, MC, Kant, SG, Santen, GWE, Verkerk, Annemieke, Uitterlinden, André, Wit, JM, Losekoot, M, Arlt, W, oostdijk, W, Idkowiak, J, Mueller, JW, House, PJ, Taylor, AE, O'Reilly, MW, Hughes, BA, de Vries, MC, Kant, SG, Santen, GWE, Verkerk, Annemieke, Uitterlinden, André, Wit, JM, Losekoot, M, and Arlt, W

Abstract

Context: PAPSS2 (PAPS synthase 2) provides the universal sulfate donor PAPS (3'-phospho-adenosine-5'-phosphosulfate) to all human sulfotransferases, including SULT2A1, responsible for sulfation of the crucial androgen precursor dehydroepiandrosterone (DHEA). Impaired DHEA sulfation is thought to increase the conversion of DHEA toward active androgens, a proposition supported by the previous report of a girl with inactivating PAPSS2 mutations who presented with low serum DHEA sulfate and androgen excess, clinically manifesting with premature pubarche and early-onset polycystic ovary syndrome. Patients and Methods: We investigated a family harboring two novel PAPSS2 mutations, including two compound heterozygous brothers presenting with disproportionate short stature, low serum DHEA sulfate, but normal serum androgens. Patients and parents underwent a DHEA challenge test comprising frequent blood sampling and urine collection before and after 100 mg DHEA orally, with subsequent analysis of DHEA sulfation and androgen metabolism by mass spectrometry. The functional impact of the mutations was investigated in silico and in vitro. Results: We identified a novel PAPSS2 frameshift mutation, c. 1371del, p. W462Cfs*3, resulting in complete disruption, and a novel missense mutation, c. 809G>A, p. G270D, causing partial disruption of DHEA sulfation. Both patients and their mother, who was heterozygous for p. W462Cfs*3, showed increased 5 alpha-reductase activity at baseline and significantly increased production of active androgens after DHEA intake. The mother had a history of oligomenorrhea and chronic anovulation that required clomiphene for ovulation induction. Conclusions: We provide direct in vivo evidence for the significant functional impact of mutant PAPSS2 on DHEA sulfation and androgen activation. Heterozygosity for PAPSS2 mutations can be associated with a phenotype resembling polycystic ovary syndrome.

Published
2015

10. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, Albrecht, B, Allanson, JE, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, BS, Delaney, LA, Destree, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, YMC, Heron, D, Hoischen, A, Honey, EM, Hoefsloot, LH, Ibrahim, J, Jacob, CM, Kant, SG, Kim, CA, Kirk, EP, Knoers, NVAM, Lacombe, D, Lee, C, Lo, IFM, Lucas, LS, Mari, F, Mericq, V, Moilanen, JS, Moller, ST, Moortgat, S, Pilz, DT, Pope, K, Price, S, Renieri, A, Sa, J, Schoots, J, Silveira, EL, Simon, MEH, Slavotinek, A, Temple, IK, van der Burgt, I, de Vries, BBA, Weisfeld-Adams, JD, Whiteford, ML, Wierczorek, D, Wit, JM, Yee, CFO, Beaulieu, CL, White, SM, Bulman, DE, Bongers, E, Brunner, H, Feingold, M, Boycott, KM, Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, Albrecht, B, Allanson, JE, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, BS, Delaney, LA, Destree, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, YMC, Heron, D, Hoischen, A, Honey, EM, Hoefsloot, LH, Ibrahim, J, Jacob, CM, Kant, SG, Kim, CA, Kirk, EP, Knoers, NVAM, Lacombe, D, Lee, C, Lo, IFM, Lucas, LS, Mari, F, Mericq, V, Moilanen, JS, Moller, ST, Moortgat, S, Pilz, DT, Pope, K, Price, S, Renieri, A, Sa, J, Schoots, J, Silveira, EL, Simon, MEH, Slavotinek, A, Temple, IK, van der Burgt, I, de Vries, BBA, Weisfeld-Adams, JD, Whiteford, ML, Wierczorek, D, Wit, JM, Yee, CFO, Beaulieu, CL, White, SM, Bulman, DE, Bongers, E, Brunner, H, Feingold, M, and Boycott, KM

Abstract

BACKGROUND: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. METHODS AND RESULTS: Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. CONCLUSIONS: This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

Published
2013

11. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, Albrecht, B, Allanson, JE, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, BS, Delaney, LA, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, YMC, Heron, D, Hoischen, A, Honey, EM, Hoefsloot, LH, Ibrahim, J, Jacob, CM, Kant, SG, Kim, CA, Kirk, EP, Knoers, NVAM, Lacombe, D, Lee, C, Lo, IFM, Lucas, LS, Mari, F, Mericq, V, Moilanen, JS, Moller, ST, Moortgat, S, Pilz, DT, Pope, K, Price, S, Renieri, A, Sa, J, Schoots, J, Silveira, EL, Simon, MEH, Slavotinek, A, Temple, IK, van der Burgt, I, de Vries, BBA, Weisfeld-Adams, JD, Whiteford, ML, Wierczorek, D, Wit, JM, Yee, CFO, Beaulieu, CL, White, SM, Bulman, DE, Bongers, E (Ernie), Brunner, H, Feingold, M, Boycott, KM, Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, Albrecht, B, Allanson, JE, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, BS, Delaney, LA, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, YMC, Heron, D, Hoischen, A, Honey, EM, Hoefsloot, LH, Ibrahim, J, Jacob, CM, Kant, SG, Kim, CA, Kirk, EP, Knoers, NVAM, Lacombe, D, Lee, C, Lo, IFM, Lucas, LS, Mari, F, Mericq, V, Moilanen, JS, Moller, ST, Moortgat, S, Pilz, DT, Pope, K, Price, S, Renieri, A, Sa, J, Schoots, J, Silveira, EL, Simon, MEH, Slavotinek, A, Temple, IK, van der Burgt, I, de Vries, BBA, Weisfeld-Adams, JD, Whiteford, ML, Wierczorek, D, Wit, JM, Yee, CFO, Beaulieu, CL, White, SM, Bulman, DE, Bongers, E (Ernie), Brunner, H, Feingold, M, and Boycott, KM

Abstract

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results: Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three Conclusions: This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

Published
2013

14. Referral patterns of children with poor growth in primary health care

Author

Grote, FK (Floor), Oostdijk, W (Wilma), Schrama, Sabine, Dekker, FW, van Dommelen, P, van Buuren, S, Kooij, AMLVD, Verkerk, PH, Wit, JM, Grote, FK (Floor), Oostdijk, W (Wilma), Schrama, Sabine, Dekker, FW, van Dommelen, P, van Buuren, S, Kooij, AMLVD, Verkerk, PH, and Wit, JM

Published
2007

16. A randomized controlled trial of three years growth hormone and gonadotropin-releasing hormone agonist treatment in children with idiopathic short stature and intrauterine growth retardation

Author

Kamp, GA, Mul, D (Dick), Waelkens, JJJ, Jansen, M, Delemarre-van de Waal, HA, Verhoeven-Wind, L, Frölich, M, Oostdijk, W (Wilma), Wit, JM, Kamp, GA, Mul, D (Dick), Waelkens, JJJ, Jansen, M, Delemarre-van de Waal, HA, Verhoeven-Wind, L, Frölich, M, Oostdijk, W (Wilma), and Wit, JM

Published
2001

17. Pubertal development in the Netherlands

Author

Mul, D (Dick), Fredriks, AM, van Buuren, S, Oostdijk, W (Wilma), Verloove-Vanhorick, SP, Wit, JM, Mul, D (Dick), Fredriks, AM, van Buuren, S, Oostdijk, W (Wilma), Verloove-Vanhorick, SP, and Wit, JM

Published
2001

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