The first Hermansky–Pudlak syndrome type 9 patient with two novel variants in Chinese population

2021 ◽  
Author(s):  
Teng Liu ◽  
Yefeng Yuan ◽  
Dayong Bai ◽  
Xingfeng Yao ◽  
Tianjiao Zhang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Syndrome Type ◽  
Novel Variants ◽  
Hermansky Pudlak Syndrome

scholarly journals Ultrastructural Features of Trafficking Defects Are Pronounced in Melanocytic Nevus in Hermansky–Pudlak Syndrome Type 1

2005 ◽  
Vol 125 (1) ◽  
pp. 154-158 ◽  
Author(s):  
Ken Natsuga ◽  
Masashi Akiyama ◽  
Tadamichi Shimizu ◽  
Tamio Suzuki ◽  
Shiro Ito ◽  
...  
Keyword(s):  
Melanocytic Nevus ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Trafficking Defects

Hermansky–Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6

2021 ◽  
pp. 104228
Author(s):  
Conghui Wang ◽  
Panlai Shi ◽  
Qianqian Li ◽  
Chenchen ◽  
Xuechao Zhao ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Variants ◽  
Hermansky Pudlak Syndrome

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder

2019 ◽  
Vol 62 (11) ◽  
pp. 103583 ◽  
Author(s):  
Mohammed Mohammed ◽  
Nadia Al-Hashmi ◽  
Samiya Al-Rashdi ◽  
Nashat Al-Sukaiti ◽  
Kawther Al-Adawi ◽  
...  
Keyword(s):  
Seizure Disorder ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Biallelic Mutations

scholarly journals Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 137
Author(s):  
Tatyana Markova ◽  
Vladimir Kenis ◽  
Evgeniy Melchenko ◽  
Darya Osipova ◽  
Tatyana Nagornova ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Normal Growth ◽  
Type I ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Genetic Characteristics ◽  
Col2a1 Gene ◽  
Skeletal Dysplasias ◽  
Spondyloepiphyseal Dysplasia ◽  
Novel Variants

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Platelets ◽  
2020 ◽  
pp. 1-4
Author(s):  
Vincent Michaud ◽  
Mathieu Fiore ◽  
Valentine Coste ◽  
Yoann Huguenin ◽  
Jean-Claude Bordet ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Dense Bodies ◽  
Hermansky Pudlak Syndrome

scholarly journals Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

2001 ◽  
Vol 69 (5) ◽  
pp. 1022-1032 ◽  
Author(s):  
Marjan Huizing ◽  
Yair Anikster ◽  
Diana L. Fitzpatrick ◽  
Anna B. Jeong ◽  
Maria D’Souza ◽  
...  
Keyword(s):  
Puerto Rican ◽  
Syndrome Type ◽  
Ashkenazi Jews ◽  
Storage Pool ◽  
Platelet Storage ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

Novel mutation in two brothers with Hermansky Pudlak syndrome type 3

2017 ◽  
Vol 67 ◽  
pp. 75-80 ◽  
Author(s):  
Kirstin Sandrock-Lang ◽  
Ingrid Bartsch ◽  
Nina Buechele ◽  
Udo Koehler ◽  
Carl Philipp Simon-Gabriel ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

2004 ◽  
Vol 127A (2) ◽  
pp. 201-207 ◽  
Author(s):  
Esther B. Bachli ◽  
Thomas Brack ◽  
Elisabeth Eppler ◽  
Thomas Stallmach ◽  
Ralph M. Trüeb ◽  
...  
Keyword(s):  
Sri Lanka ◽  
Pulmonary Fibrosis ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome
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