Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia

Lam, Ching‐Wan; Cheng, Anna Wai-Fun; Poon, Wing-Tat; Yuen, Yuet-Ping; Huen, Kwai-Fun

doi:10.1016/j.cca.2006.03.021

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…1) (Reutens et al, 1999, Lin et al, 2006, Achermann et al, 2000, Muscatelli et al, 1994, Zanaria et al, 1994, Guo, Mason, Stone et al, 1995, Takahashi, Shoji, Haraguchi et al, 1997, Meloni, Cao and Rosatelli, 1996, Nakae, Abe, Tajima et al, 1997, Schwartz, Blichfeldt and Muller, 1997, Peter, Viemann, Partsch et al, 1998, Seminara, Achermann, Genel et al, 1999, Bassett, O’Halloran, Williams et al, 1999, Caron, Imbeaud, Bennet et al, 1999, Merke, Tajima, Baron et al, 1999, Tabarin, Achermann, Recan et al, 2000, Domenice, Latronico, Brito et al, 2001, Wiltshire, Couper, Rodda et al, 2001, Sekiguchi, Hara, Matsuoka et al, 2007, Bernard, Ludbrook, Queipo et al, 2006, Verrijn Stuart, Ozisik, de Vroede et al, 2007, Landau, Hanukoglu, Sack et al, 2010, Li, Liu, Zhang et al, 2010, Sykiotis, Hoang, Avbelj et al, 2010, Abe, Nakae, Yasoshima et al, 1999, Achermann, Meeks and Jameson, 2001, Ahmad, Paterson, Lin et al, 2007, Argente, Ozisik, Pozo et al, 2003, Balsamo, Antelli, Baldazzi et al, 2005, Brown, Scobie, Townsend et al, 2003, Calliari, Longui, Rocha et al, 2007, Frapsauce, Ravel, Legendre et al, 2011, Garcia-Malpartida, Gomez-Balaguer, Sola-Izquierdo et al, 2009, Guo, Burris, Zhang et al, 1996, Habiby, Boepple, Nachtigall et al, 1996, Hamaguchi, Arikawa, Yasunaga et al, 1998, Kinoshita, Yoshimoto, Motomura et al, 1997, Krone, Riepe, Dorr et al, 2005, Lam, Cheng, Poon et al, 2006, Mantovani, Ozisik, Achermann et al, 2002, Mericq, Ciaccio, Marino et al, 2007, Nakae, Tajima, Kusuda et al, 1996, Ozisik, Mantovani, Achermann et al, 2003, Salvi, Gomez, Fiaux et al, 2002, Tsai and Tung, 2005, Wang, Killinger and Hegele, 1999, Wu, Zhang, Zhou et al, 2011, Yanase, Takayanagi, Oba et al, 1996, Zhang, Guo, Wagner et al, 1998, Zhang, Huang, Anyane-Yeboa et al, 2001, Franzese, Brunetti-Pierri, Spagnuolo et al, 2005, Laissue, Copelli, Bergada et al, 2006, Okuhara, Abe, Kondo et al, 2008). After other known causes (i.e., congenital adrenal hyperplasia, CAH) have been excluded, it is estimated that as many as 50% of boys with idiopathic primary adrenal insufficiency may have mutations in DAX1 (…”

Section: Human Studiesmentioning

confidence: 99%

Hypogonadotropic hypogonadism in subjects with DAX1 mutations

Jadhav

Harris

Jameson

2011

Molecular and Cellular Endocrinology

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DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1; also known as NROB1, nuclear receptor subfamily 0, group B, member 1) encodes a nuclear receptor that is expressed in embryonic stem (ES) cells, steroidogenic tissues (gonads, adrenals), the ventromedial hypothalamus (VMH), and pituitary gonadotropes. Humans with DAX1 mutations develop an X-linked syndrome referred to as adrenal hypoplasia congenita (AHC). These boys typically present in infancy with adrenal failure but later fail to undergo puberty because of hypogonadotropic hypogonadism (HHG). The adrenal failure reflects a developmental abnormality in the transition of the fetal to adult zone, resulting in glucocorticoid and mineralocorticoid deficiency. The etiology of HHG involves a combined and variable deficiency of hypothalamic GnRH secretion and/or pituitary responsiveness to GnRH resulting in low LH, FSH and testosterone. Treatment with exogenous gonadotropins generally does not induce spermatogenesis. Animal models indicate that DAX1 also plays a critical role in testis development and function. As a nuclear receptor, DAX1 has been shown to function as a transcriptional repressor, particularly of pathways regulated by other nuclear receptors, such as steroidogenic factor 1 (SF1). In addition to reproductive tissues, DAX1 is also expressed at high levels in ES cells and plays a role in the maintenance of pluripotentiality. Here we review the clinical manifestations associated with DAX1 mutations as well as the evolving information about its function based on animal models and in vitro studies.

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Section: Human Studiesmentioning

confidence: 99%

Hypogonadotropic hypogonadism in subjects with DAX1 mutations

Jadhav

Harris

Jameson

2011

Molecular and Cellular Endocrinology

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Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)

Lam

2021

Journal of Laboratory Medicine

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Objectives Most rare diseases are genetic diseases. Due to the diversity of rare diseases and the high likelihood of patients with rare diseases to be undiagnosed or misdiagnosed, it is not unusual that these patients undergo a long diagnostic odyssey before they receive a definitive diagnosis. This situation presents a clear need to set up a dedicated clinical service to end the diagnostic odyssey of patients with rare diseases. Methods Therefore, in 2014, we started an Undiagnosed Diseases Program in Hong Kong with the aim of ending the diagnostic odyssey of patients and families with rare diseases by clinical whole-exome sequencing (CWES), who have not received a definitive diagnosis after extensive investigation. Results In this program, we have shown that genetic diseases diagnosed by CWES were different from that using traditional approaches indicating that CWES is an essential tool to diagnose rare diseases and ending diagnostic odysseys. In addition, we identified several novel genes responsible for monogenic diseases. These include the TOP2B gene for autism spectrum disorder, the DTYMK gene for severe cerebral atrophy, the KIF13A gene for a new mosaic ectodermal syndrome associated with hypomelanosis of Ito, and the CDC25B gene for a new syndrome of cardiomyopathy and endocrinopathy. Conclusions With the incorporation of CWES in an Undiagnosed Diseases Program, we have ended diagnostic odysseys of patients with rare diseases in Hong Kong in the past 7 years. In this program, we have shown that CWES is an essential tool to end diagnostic odysseys. With the declining cost of next-generation sequencers and reagents, CWES set-ups are now affordable for clinical laboratories. Indeed, owing to the increasing availability of CWES and treatment modalities for rare diseases, precedence can be given to both common and rare medical conditions.

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Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia

Cited by 2 publications

References 6 publications

Hypogonadotropic hypogonadism in subjects with DAX1 mutations

Hypogonadotropic hypogonadism in subjects with DAX1 mutations

Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)

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