Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Molecular Syndromology
F KortümK Kutsche

Abstract

Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia. The genetic cause of this developmental disorder is presently unknown. Here we describe 8 new patients with a phenotype of HSS. Individuals with HSS present with clinical features overlapping with some progeroid syndromes that belong to the laminopathies, such as Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia (MAD). HGPS is caused by de novo point mutations in the LMNA gene, coding for the nuclear lamina proteins lamin A and C. MAD with type A and B lipodystrophy are recessive disorders resulting from mutations in LMNA and ZMPSTE24, respectively. ZMPSTE24 in addition to ICMT encode proteins involved in posttranslational processing of lamin A. We hypothesized that HSS is an allelic disorder to HGPS and MAD. As the nuclear shape is often irregular in patients with LMNA mutations, we first analyzed the nuclear morphology in skin fibroblasts of patients with HSS, but could ...Continue Reading

Citations

Jul 23, 2014·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Juliana Ximenes DamascenoCristiane Sá Roriz Fonteles
Dec 24, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Julia Schmidt, Bernd Wollnik
Nov 14, 2020·The Journal of Craniofacial Surgery·Alfredo von MarttensVíctor Beltrán

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