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Article

A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.

BMC pulmonary medicine - 16 Jul 2024

Yao Xiu-Juan, Chen Qian, Yu Hong-Ping, Ruan Dan-Dan, Li Shi-Jie, Wu Min, Liao Li-Sheng, Lin Xin-Fu, Fang Zhu-Ting, Luo Jie-Wei, Xie Bao-Song

Abstract excerpt

BACKGROUND: Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease characterized by recurrent respiratory infections. In clinical manifestations, DNAH5 (NM_001361.3) is one of the recessive pathogenic genes. Primary familial brain calcification (PFBC) is a neurodegenerative disease characterized by bilateral calcification in the basal ganglia and other brain regions. PFBC can be inherited...

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Identifiers

PMID: 39014333
DOI: 10.1186/s12890-024-03164-w
PMCID: PMC11251106

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