A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.

The Journal of Clinical Endocrinology and Metabolism
Savitha ShastryAbhimanyu Garg

Abstract

Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes. The objective of the study was to report a novel syndrome with some overlapping features with MAD. We report seven patients with mandibular hypoplasia, deafness, progeroid features (MDP), and associated lipodystrophy. These patients have similar features to MAD patients such as hypoplastic mandible, beaked nose, stiff joints, and sclerodermatous skin. However, the patients did not harbor any disease causing variants in LMNA or ZMPSTE24 and showed distinct characteristics such as sensorineural hearing loss and absence of clavicular hypoplasia and acroosteolysis. All males with MDP had undescended testes and were hypogonadal. One adult female showed lack of breast development. Skinfold thickness, dual-energy X-ray absorptiometry and whole-body magnetic resonance imaging for body fat distribution revealed a lack of lipodystrophy in a prepubertal female but a progressive loss of sc fat presenting with partial lipodystrophy in young adults and generalized lipodystrophy in older patients. Patients with MDP s...Continue Reading

References

Jan 1, 1992·American Journal of Diseases of Children·G R FreidenbergS Kaufmann
Dec 5, 2000·American Journal of Medical Genetics·D Ng, C A Stratakis
Feb 12, 2002·The Journal of Clinical Endocrinology and Metabolism·Vinaya Simha, Abhimanyu Garg
Jun 21, 2002·American Journal of Human Genetics·Giuseppe NovelliGisèle Bonne
Jun 6, 2003·The Journal of Clinical Endocrinology and Metabolism·Vinaya SimhaAbhimanyu Garg
Aug 13, 2003·Human Molecular Genetics·Anil K AgarwalAbhimanyu Garg
Dec 21, 2005·Molecular Genetics and Metabolism·Katherine N Jacob, Abhimanyu Garg
Dec 13, 2006·Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research·Anil K AgarwalAbhimanyu Garg
Feb 8, 2008·The New England Journal of Medicine·Melissa A MeridethWendy J Introne
May 15, 2008·American Journal of Medical Genetics. Part a·Julia RankinSian Ellard
Sep 16, 2009·PloS One·Thomas L KellySteven B Heymsfield
Oct 31, 2009·The Journal of Clinical Endocrinology and Metabolism·Abhimanyu GargYanick Crow
Sep 4, 2010·American Journal of Medical Genetics. Part a·Zahid AhmadAbhimanyu Garg

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Citations

Sep 21, 2011·American Journal of Medical Genetics. Part a·Rubén CabanillasCarlos López-Otín
Jul 15, 2015·Human Mutation·Davor LesselChristian Kubisch
Aug 5, 2015·Nature Reviews. Endocrinology·Nivedita Patni, Abhimanyu Garg
May 3, 2014·Medicina clínica·Cristina Guillín-AmarelleDavid Araújo-Vilar
Feb 18, 2015·Current Diabetes Reports·Romina FicarellaFrancesco Giorgino
Nov 9, 2016·Endocrinology and Metabolism Clinics of North America·Iram Hussain, Abhimanyu Garg
Nov 6, 2018·DNA and Cell Biology·Chiara FiorilloGiuseppe Novelli
Sep 26, 2017·Molecular Medicine Reports·Hong DuanHuijun Yuan
Jun 26, 2018·Nucleus·Romina BurlaIsabella Saggio
Aug 6, 2019·The Journal of Clinical Investigation·Jake P Mann, David B Savage
Sep 13, 2020·Pediatric Rheumatology Online Journal·Barbara JensenDespina Eleftheriou
May 23, 2020·Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy·Christos BagiasStelios Tigas
Aug 26, 2011·The Journal of Clinical Endocrinology and Metabolism·Abhimanyu Garg
Jan 23, 2021·International Journal of Molecular Sciences·Megan Schmit, Anja-Katrin Bielinsky
Apr 18, 2021·European Journal of Ophthalmology·Lin ZhouZhuping Xu
Jun 10, 2021·The Application of Clinical Genetics·Fabio Coppedè
Jul 22, 2021·Molecular Cytogenetics·Peter R PapenhausenAndrea Penton

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