Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Jul 16, 2022; 10(20): 6936-6943
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.6936
Table 1 Characteristics of osteopetrosis patients with chloride channel 7 mutation from reported cases
Ref.
Year
Country
Sex
Age (yr)
SNP property
Function change
Nucleotide change
Symptoms
Letizia et al[11]2004ItalyM16Exon 25 missenseA262D (p.Ala262Asp)788 C>ALumbar spine and pelvis pain; right ear deafness
Zhang et al[12]2009ChinaF32Exon 24 nonsenseR767W (p. Arg767Trp)2337C>TBack pain
M17Exon 25 frameshiftE798 FS (p.Glu798FS)60_61–/GBack pain
Xue et al[13]2012ChinaM28Exon16 missenseP470 L (p.Pro470Leu)1409 C>TRecurrent swelling in the right face; fractures of the legs; unerupted teeth with root dysplasia
M38Exon 10 missenseR286 W (p.Arg286Trp)856C>TOsteomyelitis; nonunion of a femur fracture; unerupted teeth with root dysplasia
Rashid et al[14]2013Iraqi-KurdishF12Exon 15 missenseR409 W (p.Arg409Trp)1225C>TAnemia; diffuse cutaneous ecchymosis with gum bleeding; recurrent epistaxis; chest infections; right-sided conductive deafness; back pain
M16Exon 15 nonsenseR409W (p.Arg409Trp)c.1225C>TDecline in visual acuity
Zheng et al[15]2014ChinaM51Exon 7 missenseG215 R (p.Gly215Arg)643 G>AFemur fracture
M12Exon 10 missenseA299V (p.Ala299Val)896C>TPain in the left foot
F75Exon 11 missenseW319R (p.Trp319Arg)955T>AClavicle fracture; knee osteoarthritis; anemia
Ozkan et al[16]2015TurkeyF46NaNANABack pain
Chen et al[17] 2016ChinaM43Exon 20 missenseP619 L (p.Pro619Leu)c.1856C>TDiscomfort in lower extremities
Piret et al[18]2016United KingdomF49Exon 20 missenseG215 R (p.Gly215Arg)c.643G>AFractures (tibia, ankle)
Zheng et al[19]2016ChinaM5Exon 4 missenseTyr99 Cys (p.Y99C)c.296 A>GFracture of the right clavicle
F35Exon 10 missenseV289L (p.Val289Leu)c.865G>CNA
F8-month-oldExon 17 missenseA542V (p.Ala542Val)c.1625C>TFlexion and abduction of the left hip was restricted
F27Exon 24 nonsenseR767W (p. Arg767Trp)c.2299C>TNeck discomfort
Zhang et al[20]2017ChinaM2Exon 9 missenseG240E (p.Gly240Glu)c.791G>ACompletely blind in his right eye
F5Exon 11 missenseF318S (p.Phe318Ser)c.953T>CPneumonia
F62Exon 24 nonsenseS753W (p.Ser753Trp)c.2258C>GBack pain
Kim et al[21]2018KoreaF68Exon 4 missenseY99C (p.Tyr99Cys)c.296A>GPain in hip joint; unable to walk independently
Kang et al[22]2019KoreaM18Exon 9 missenseP249 L (p.Pro249Leu)c.746C>TPain in the right shin
Li et al[23]2019ChinaF15Exon 9 missenseR286W (p.Arg286Trp)c.856C>TBack pain
F42Exon 22 missenseY746D (p.Try746Asp)c.2236T>GAnemia
M10Exon 3 missenseY99C (p.Tyr99Cys)c.296A>GRecurrent influenza; fractures in the left tibia
F32Exon 10 missenseE313K (p.Glu313Lys)c.937G>ABlind; fractures; tinnitus; splenomegaly
M24Exon 24 missenseG793R (p.Gly793Arg)c.2377G>CDiscomfort in the abdomen; fractures; cementoma; anemia; thrombocytopenia
F37Exon 16 missense; Exon 7 insertionP470L (p.Pro470Leu); p.Lys217Xc.1409C>T; c.647_648 dupTGGrowth retardation; cysts; recurrent infections of the right knee joint; arthralgia, ankylosis, deformity of the right knee with claudication; amblyopia of the left eye; amblyacousia of the left ear, dental problems, fracture, anemia
Peng et al[24]2020ChinaF22Intron 1 missenseM560V (p.Met560Val)c.1678A > GBone pain; fracture in the hip