Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report

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]	2004	Italy	M	16	Exon 25 missense	A262D (p.Ala262Asp)	788 C>A	Lumbar spine and pelvis pain; right ear deafness
Zhang et al[12]	2009	China	F	32	Exon 24 nonsense	R767W (p. Arg767Trp)	2337C>T	Back pain
			M	17	Exon 25 frameshift	E798 FS (p.Glu798FS)	60_61–/G	Back pain
Xue et al[13]	2012	China	M	28	Exon16 missense	P470 L (p.Pro470Leu)	1409 C>T	Recurrent swelling in the right face; fractures of the legs; unerupted teeth with root dysplasia
			M	38	Exon 10 missense	R286 W (p.Arg286Trp)	856C>T	Osteomyelitis; nonunion of a femur fracture; unerupted teeth with root dysplasia
Rashid et al[14]	2013	Iraqi-Kurdish	F	12	Exon 15 missense	R409 W (p.Arg409Trp)	1225C>T	Anemia; diffuse cutaneous ecchymosis with gum bleeding; recurrent epistaxis; chest infections; right-sided conductive deafness; back pain
			M	16	Exon 15 nonsense	R409W (p.Arg409Trp)	c.1225C>T	Decline in visual acuity
Zheng et al[15]	2014	China	M	51	Exon 7 missense	G215 R (p.Gly215Arg)	643 G>A	Femur fracture
			M	12	Exon 10 missense	A299V (p.Ala299Val)	896C>T	Pain in the left foot
			F	75	Exon 11 missense	W319R (p.Trp319Arg)	955T>A	Clavicle fracture; knee osteoarthritis; anemia
Ozkan et al[16]	2015	Turkey	F	46	Na	NA	NA	Back pain
Chen et al[17]	2016	China	M	43	Exon 20 missense	P619 L (p.Pro619Leu)	c.1856C>T	Discomfort in lower extremities
Piret et al[18]	2016	United Kingdom	F	49	Exon 20 missense	G215 R (p.Gly215Arg)	c.643G>A	Fractures (tibia, ankle)
Zheng et al[19]	2016	China	M	5	Exon 4 missense	Tyr99 Cys (p.Y99C)	c.296 A>G	Fracture of the right clavicle
			F	35	Exon 10 missense	V289L (p.Val289Leu)	c.865G>C	NA
			F	8-month-old	Exon 17 missense	A542V (p.Ala542Val)	c.1625C>T	Flexion and abduction of the left hip was restricted
			F	27	Exon 24 nonsense	R767W (p. Arg767Trp)	c.2299C>T	Neck discomfort
Zhang et al[20]	2017	China	M	2	Exon 9 missense	G240E (p.Gly240Glu)	c.791G>A	Completely blind in his right eye
			F	5	Exon 11 missense	F318S (p.Phe318Ser)	c.953T>C	Pneumonia
			F	62	Exon 24 nonsense	S753W (p.Ser753Trp)	c.2258C>G	Back pain
Kim et al[21]	2018	Korea	F	68	Exon 4 missense	Y99C (p.Tyr99Cys)	c.296A>G	Pain in hip joint; unable to walk independently
Kang et al[22]	2019	Korea	M	18	Exon 9 missense	P249 L (p.Pro249Leu)	c.746C>T	Pain in the right shin
Li et al[23]	2019	China	F	15	Exon 9 missense	R286W (p.Arg286Trp)	c.856C>T	Back pain
			F	42	Exon 22 missense	Y746D (p.Try746Asp)	c.2236T>G	Anemia
			M	10	Exon 3 missense	Y99C (p.Tyr99Cys)	c.296A>G	Recurrent influenza; fractures in the left tibia
			F	32	Exon 10 missense	E313K (p.Glu313Lys)	c.937G>A	Blind; fractures; tinnitus; splenomegaly
			M	24	Exon 24 missense	G793R (p.Gly793Arg)	c.2377G>C	Discomfort in the abdomen; fractures; cementoma; anemia; thrombocytopenia
			F	37	Exon 16 missense; Exon 7 insertion	P470L (p.Pro470Leu); p.Lys217X	c.1409C>T; c.647_648 dupTG	Growth 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]	2020	China	F	22	Intron 1 missense	M560V (p.Met560Val)	c.1678A > G	Bone pain; fracture in the hip

SNP: Single nucleotide polymorphism; M: Male; F: Female; NA: Not available.