Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing

Figures & data

Figure 1 Family tree of the patient with OI type XI.

Abbreviation: OI, osteogenesis imperfecta.

Figure 2 Anthropometric evolution of a patient with OI type III: (A) weight vs. age and (B) height vs. age. Growth charts were developed by Frank Rauch for patients with OI type III.

Abbreviation: OI, osteogenesis imperfecta.

Figure 3 Physical examination of a patient with OI type III: (A) thorax and (B) lower limbs with hypotrophy and genu valgus.

Abbreviation: OI, osteogenesis imperfecta.

Figure 4 Paraclinical follow-up of a patient with OI type III: (A) values of 25-hydroxyvitamin D, (B) serum levels of parathyroid hormone, (C) levels of alkaline phosphatase, (D) levels of serum calcium, and (E) level of inorganic phosphorus in serum.

Abbreviations: OI, osteogenesis imperfecta; PTH, parathyroid hormone.

Table 1 Compendium of patients with OI with mutations in the gene FKBP10

Gender		Age at 1st fracture (months)	Number of fractures at 10 years	Group of the 1st affected bone	Age at clinical diagnosis	Age at molecular diagnosis (years)	Use of wheelchair	Age at the time of the study (years)	Type of mutation	Consanguinity	Reference
1	F	NA	NA	Long	NA	NA	NA	NA	Homozygous 33-base-pair deletion (c.321_353del), deletion of 11 aa (Gly107 Leu117del)	Yes	Alanay et al^Citation1
2	M	NA	NA	Long	NA	NA	NA	NA	Homozygous 33-base-pair deletion (c.321_353del), deletion of 11 aa (Gly107 Leu117del)	Yes	Alanay et al^Citation1
3	F	NA	NA	Long	NA	NA	NA	NA	Homozygous 33-base pair deletion (c.321_353del), deletion of 11 aa (Gly107 Leu117del)	Yes	Alanay et al^Citation1
4	F	NA	NA	Long	NA	NA	NA	NA	Homozygous 33-base-pair deletion (c.321_353del), deletion of 11 aa (Gly107 Leu117del)	Yes	Alanay et al^Citation1
5	F	NA	NA	Long	NA	12	No	12	Homozygous c.831_832insC (p.Gly278ArgfsX295) stop codon 17 aa downstream	Yes	Alanay et al^Citation1
6	M	NA	NA	Long	NA	16	Yes	16	Homozygous c.831_832insC (p.Gly278ArgfsX295) stop codon 17 aa downstream	Yes	Alanay et al^Citation1
7	M	NA	NA	Long	NA	18	Yes	18	Homozygous c.831_832insC (p.Gly278ArgfsX295) stop codon 17 aa downstream	Yes	Alanay et al^Citation1
8	M	9	70–100 in lifetime	Long	9 years	46	Yes	46	Homozygous into a stop codon (c.1207C>T, FKBP65-p.Arg403)	Yes	Steinlein et al^Citation34
9	M	1	70–100 in lifetime	Long	1 year	44	Yes	44	Homozygous into a stop codon (c.1207C>T, FKBP65-p.Arg403)	Yes	Steinlein et al^Citation34
10	M	1	70–100 in lifetime	Long	1 year	43	Yes	43	Homozygous into a stop codon (c.1207C>T, FKBP65-p.Arg403)	Yes	Steinlein et al^Citation34
11	M	1	NA	NA	Birth	7	Yes	7	Homozygous mutation c.976delA (p.Met326Trpfs*39) in exon 6 of the FKBP10 gene	Yes	Seyedhassani et al^Citation35
12	F	1	5–6	Long	2 years	6	Yes	11	c.743dupC	Yes	Shaheen et al^Citation36
13	F	6	2–3	NA	5 years	14	No	14	c.743dupC	Yes	Shaheen et al^Citation36
14	M	1	3	Long	8 years	17	Yes	17	c.743dupC	Yes	Shaheen et al^Citation36
15	M	48	1–2	NA	48 years	NA	Yes	12	c.743dupC	Yes	Shaheen et al^Citation36
16	M	1	NA	NA	10 months	1	NA	0.8	c.831dupC	Yes	Shaheen et al^Citation36
17	F	1	ND	Long	1 year	12	No	12	Homozygous FKBP10 c.1271_1272delCCinsA mutation	Yes	Barnes et al^Citation3
18	M	NA	NA	Long	NA	17	Yes	17	Homozygous substitution of G with A at nucleotide position 1490 (c.1490G4A; p.Trp497)	Yes	Umair et al^Citation32
19	M	NA	NA	Long	NA	10	Yes	10	Homozygous substitution of G with A at nucleotide position 1490 (c.1490G4A; p.Trp497)	Yes	Umair et al^Citation32
20	F	NA	NA	Long	NA	NA	NA	NA	Homozygous substitution of G with A at nucleotide position 1490 (c.1490G4A; p.Trp497)	Yes	Umair et al^Citation32
21	F	NA	NA	Long	NA	15	NA	15	Homozygous substitution of nucleotide G with A at position 344 (c.344G4A; p.R115Q)	Yes	Umair et al^Citation32
22	F	NA	NA	Long	NA	NA	NA	NA	Homozygous substitution of nucleotide G with A at position 344 (c.344G4A; p.R115Q)	Yes	Umair et al^Citation32
23	F	NA	NA	Long	NA	11	NA	11	Homozygous substitution of nucleotide G with A at position 344 (c.344G4A; p.R115Q)	Yes	Umair et al^Citation32
24	M	NA	NA	Long	NA	12	NA	14	Homozygous duplication of a nucleotide C at position 831 (c.831dupC; p.Gly278ArgfsX295)	Yes	Umair et al^Citation32
25	M	NA	NA	Long	NA	17	NA	17	Homozygous duplication of a nucleotide C at position 831 (c.831dupC; p.Gly278ArgfsX295)	Yes	Umair et al^Citation32
26	F	NA	NA	Long	NA	18	Yes	18	Homozygous duplication of a nucleotide C at position 831 (c.831dupC; p.Gly278ArgfsX295)	Yes	Umair et al^Citation32
27	F	1	3–5 years	Long	3 years	3	Yes	3	c.21dupC p.(Ser8Glnfs 67)	Yes	Caparrós et al^Citation37
28	F	1	NA	Long	5 months	1	No	0.4	c.689T>C p.(Ile230Thr)	Yes	Caparrós et al^Citation37
29	M	6	1	Long	7 years	7	No	7	Homozygous MN-021939.3:C612>G Chr 17 (GRCh 38): 41818412C>G	Yes	Case report of this article

Note: This table was created by the authors of this article based on the results reported in the articles referenced in the last column of the table.

Abbreviations: OI, osteogenesis imperfecta; NA, not available.

Figure S1 Image of Chr17 variant (GRCh38):g.41818412C>G seen by NGS.

Abbreviation: NGS, next-generation sequencing.

Figure S2 Image of the electropherogram of the confirmation of the pathogenic variant Chr17 (GRCh38):g.41818412C>G p.Tyr204*.

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