Details

Autor(en) / Beteiligte

• Luo, X J
• Cao, K
• Liu, J
• Duan, Q Y
• Chen, S Y
• Zhang, Y
• Huang, T
• Mao, X N
• Li, C G
• Chen, Y S

Titel

Gene analysis and clinical features of MYH9-related disease

Ist Teil von

• Zhonghua er ke za zhi, 2021-11, Vol.59 (11), p.957

Ort / Verlag

China

Erscheinungsjahr

2021

Quelle

MEDLINE

Beschreibungen/Notizen

• To identify gene variants and investigate clinical features of nonmuscle myosin heavy chain 9-related disease (MYH9-RD). In this retrospective study, the data of patients with MYH9-RD admitted to Shenzhen Children's Hospital from July 2017 to September 2020 were extracted. The gene variants, clinical features and laboratory tests results were summarized. Among the 6 children, 4 were males and 2 were females, aged 4.0 (0.5-7.6) years. Main clinical manifestations included thrombocytopenia (6 cases), epistaxis (3 cases), petechias (2 cases), traumatic hematoma (1 case), and abnormal liver enzymes (1 case). One patient had no family history, and the other 5 cases were pedigrees. Two pedigrees (2 cases) had long-term microscopic hematuria, one pedigree (2 cases) had history of early cataract, and three pedigrees (5 cases) had chronic mild elevation of liver enzymes. Four MYH9 gene variants were found in 12 patients, including c.2104C>T(p.R702C) in exon 17, c.4270G>A(p.D1424N) in exon 31, c.5521G>A (p.E1841K) in e