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A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.

Abstract Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 28328823
OWN - NLM
STAT- MEDLINE
DA  - 20170322
DCOM- 20170412
LR  - 20170412
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 12
DP  - 2017 Mar
TI  - A case report of pycnodysostosis with atypical femur fracture diagnosed by
      next-generation sequencing of candidate genes.
PG  - e6367
LID - 10.1097/MD.0000000000006367 [doi]
AB  - RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia
      characterized by short stature, craniofacial dysmorphism, acro-osteolysis,
      osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from 
      the deficient activity of cathepsin K, a lysosomal cysteine protease that is
      encoded by CTSK. PATIENT CONCERNS: We report a Korean adult patient with
      pycnodysostosis and atypical femur fracture whose diagnosis was confirmed by
      next-generation sequencing (NGS) of candidate genes. A 41-year-old female patient
      was presented with a left femur fracture after falling down. Underlying sclerotic
      bone disease was suspected as a radiographic skeletal survey showed thickened
      cortical bones, and the total body bone density was increased (T score was 5.3,
      and Z score was 4.9). DIAGNOSES: We performed candidate gene sequencing of
      various sclerotic bone diseases for the differential molecular diagnosis of
      underlying sclerosing bone disease. Two heterozygous variants of CTSK were
      detected. One was a frameshift variant in exon 5, c.426delT (p.Phe142Leufs*19),
      which was previously reported, and the other was a novel missense variant in exon
      6, c.755G>A (p.Ser252Asn). Sanger sequencing of CTSK confirmed the 2 heterozygous
      variants and thus the patient was diagnosed with pycnodysostosis. INTERVENTIONS: 
      The patient had emergency surgery for subtrochantic femoral fracture. OUTCOMES:
      After 4 months of surgery, the patient had almost a full range of hip and knee
      movements and radiographs show the substantial bridging callus across the
      fracture. LESSONS: Candidate gene sequencing could be a useful diagnostic tool
      for the genetically heterogeneous skeletal dysplasia group, especially in cases
      with a mild or atypical clinical phenotype.
FAU - Song, Hyung Keun
AU  - Song HK
AD  - aDepartment of Orthopedic Surgery bDepartment of Medical Genetics cDepartment of 
      Endocrinology and Metabolism, Ajou University Hospital, Ajou University School of
      Medicine, Suwon dGreen Cross Genome, Yongin, Republic of Korea.
FAU - Sohn, Young Bae
AU  - Sohn YB
FAU - Choi, Yong Jun
AU  - Choi YJ
FAU - Chung, Yoon-Sok
AU  - Chung YS
FAU - Jang, Ja-Hyun
AU  - Jang JH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - EC 3.4.22.38 (CTSK protein, human)
RN  - EC 3.4.22.38 (Cathepsin K)
SB  - AIM
SB  - IM
MH  - Accidental Falls
MH  - Adult
MH  - Bone and Bones/diagnostic imaging/surgery
MH  - Cathepsin K/*genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Femoral Fractures/*diagnosis/etiology/*genetics/surgery
MH  - Frameshift Mutation
MH  - Humans
MH  - Mutation, Missense
MH  - Pycnodysostosis/*diagnosis/*genetics
MH  - Sequence Analysis
PMC - PMC5371460
EDAT- 2017/03/23 06:00
MHDA- 2017/04/13 06:00
CRDT- 2017/03/23 06:00
AID - 10.1097/MD.0000000000006367 [doi]
AID - 00005792-201703240-00026 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Mar;96(12):e6367. doi: 10.1097/MD.0000000000006367.

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