Table 2.

Information of individuals with CLCN7 mutations.

Family	No.	DNA Nucleotide Change (NM_001287.5)	Predicted Protein Change (NP_001278.1)	Genotype	Subtype	Radiographic changes	Anemia	Craniofacial Phenotypes	Dental Phenotypes	Age at diagnosis
A	I2	c.746C>T	p.Pro249>Leu	heterozygous	asymptomatic	mild	absent	absent	absent	N/A
	II1	c.746C>T	p.Pro249>Leu	heterozygous	ADO II	serve	moderate	moderate	moderate	4 years old
	II3	c.746C>T	p.Pro249>Leu	heterozygous	ADO II	serve	absent	mild	mild	7 years old
	III1	c.746C>T	p.Pro249>Leu	heterozygous	asymptomatic*	mild	absent	absent	absent	N/A
B	I2	c.1430T>C	p.Leu477Pro	heterozygous	asymptomatic	N/A	absent	absent	N/A	N/A
	II1	c.856C>T; c.1430T>C	p.Arg286Trp; p.Leu477Pro	compound heterozygous	IRO	severe	severe	severe	severe	3-4 years old
C	I2	c.1409C>T	p.Pro470Leu	heterozygous	asymptomatic	N/A	absent	absent	N/A	N/A
	II1	c.1409C>T	p.Pro470Leu	homozygous	IRO	severe	severe	severe	severe	6-7 years old
D	II1	c.856C>T	p.Arg286Trp	heterozygous	ADO II	moderate	absent	moderate	moderate	6 years old

N/A: not available; * polydactyly; IRO: intermediate autosomal osteopetrosis; ADO II: autosomal dominant osteopetrosis, type II.