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Table 1 Clinical symptoms and information on the variants in the nine HR-affected families

From: Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

Family

Patient (age)

Clinical symptoms

Variant gene

Variant type

Variant position

Nucleotide change

Amino acid change

Novelty

Family 1

I-2 (32 yr)

Loss of teeth; bone deformity; unable to walk

PHEX

Splicing

Exon 5

c.591A > G

(p.Gly196Alafs*16)

Reported

 

II-1 (5 yr)

Growth retardation; short stature (− 4.26 SD); Loss of teeth; bone deformity; mental retardation

      

Family 2

II-1

Dental defect; bone deformity; fractures; bone pain; weakness in walking

PHEX

Deletion

Exon 17

c.1661_1726del

(p.Glu554_Gly575del)

Novel

Family 3

I-2

Loss of teeth; bone deformity; short stature (− 7.52 SD)

PHEX

Missense; Nonsense

Exon 9; Exon 9

c.[980A > G; 1078A > T]

p.[Tyr327Cys; Lys360*]

Novel; Novel

 

II-2 (37 yr)

Loss of teeth; bone deformity; fractures; bone pain; short stature (− 8.64 SD); unable to walk

      

Family 4

II-3 (34 yr)

Dental defect; bone deformity; fractures; bone pain

PHEX

Missense

Exon 17

c.1735G > A

(p.Gly579Arg)

Reported

Family 5

I-2

Short stature; mild bone deformity; loss of teeth; bowing; fractures

PHEX

Splicing

Intron 9

c.1079 + 1G > A

(p.?)

Reported

 

II-1

Short stature; bone deformity; loss of teeth; bowing; fractures

      
 

II-3 (35 yr)

Short stature (− 11.10 SD); bone deformity; loss of teeth; bowing; fractures; knee valgus; scoliosis

      
 

II-5

Short stature; bone deformity; loss of teeth; bowing; fractures

      
 

III-1 (10 yr)

Bowing; knee valgus

      

Family 6

II-9

Loss of teeth; bone pain

PHEX

Duplication

Exon 9

c.1017_1051dup

(p.Phe351Trpfs*16)

Novel

 

III-9 (29 yr)

Loss of teeth; bone deformity; fractures; short stature (− 5.67SD)

      
 

IV-1

Trembling in both lower limbs; foot eversion; poor balance when walking

      

Family 7

II-1 (28 yr)

Loss of teeth; O-shaped legs; short stature (− 5.67SD); fractures

PHEX

Splicing

Intron 19

c.1965 + 1G > A

(p.?)

Reported

Family 8

II-1 (6 yr)

X-shaped legs; dental defect; impaired physical mobility

PHEX

Missense

Exon 16

C.1699C > T

(p.Arg567*)

Reported

Family 9

II-1 (34 yr)

X-shaped legs; loss of teeth; fractures; kyphosis

SLC34A3

Missense

Exon 12/Exon 12

c.1336G > A/c.1364 T > C

(p.Val446Ile)/(p.Leu455Pro)

Novel/Novel